DIAPH3

diaphanous related formin 3

Summary

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Known Variants374 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3803205	13:60,240,571	T/A	—	benign
rs111915155	13:60,240,695	T/A	—	likely benign
rs73540682	13:60,240,702	T/A	—	benign
rs375648930	13:60,240,721	T/C	—	likely benign
rs765346256	13:60,240,728	C/T	—	uncertain significance
rs546723182	13:60,240,729	G/A	—	uncertain significance
rs765450860	13:60,240,735	T/C	—	uncertain significance
rs890334312	13:60,240,766	T/C	—	likely benign
rs1356222220	13:60,240,784	G/A	—	likely benign
rs769731457	13:60,240,796	C/T	—	likely benign
rs761717869	13:60,240,823	A/G	—	likely benign
rs2501340127	13:60,240,824	T/G	—	uncertain significance
rs767517331	13:60,240,828	A/G	—	uncertain significance
rs41293422	13:60,240,829	C/T	—	benign
rs201156125	13:60,240,830	G/A	—	benign
rs781650639	13:60,240,861	C/T	—	uncertain significance
rs959882453	13:60,240,865	A/G	—	likely benign
rs775429843	13:60,240,872	T/C	—	uncertain significance
rs372728091	13:60,240,884	T/C	—	uncertain significance
rs188721921	13:60,240,903	C/T	—	conflicting classifications of pathogenicity
rs753227453	13:60,240,911	G/C	—	uncertain significance
rs370662741	13:60,240,913	C/T	—	likely benign
rs2501341716	13:60,240,929	T/A	—	uncertain significance
rs963183930	13:60,240,935	T/C	—	uncertain significance
rs76626460	13:60,240,948	G/A	—	conflicting classifications of pathogenicity
rs780627528	13:60,240,960	T/C	—	uncertain significance
rs9538494	13:60,240,961	C/T	—	benign
rs928385662	13:60,240,983	A/G	—	uncertain significance
rs193198941	13:60,240,996	A/G	—	benign
rs9538497	13:60,257,513	T/A	intron variant	—
rs1417329	13:60,308,091	T/C	intron variant	—
rs118146973	13:60,310,811	T/A	intron variant	—
rs7985860	13:60,322,248	G/A	intron variant	—
rs341549	13:60,348,009	C/T	—	benign
rs113570721	13:60,348,267	T/C	—	likely benign
rs182505430	13:60,348,280	A/G	—	likely benign
rs190669571	13:60,348,312	C/T	—	likely benign
rs199814282	13:60,348,359	T/C	—	conflicting classifications of pathogenicity
rs759456145	13:60,348,376	C/T	—	uncertain significance
rs1156923369	13:60,348,377	G/A	—	uncertain significance
rs1361545813	13:60,348,383	C/T	—	uncertain significance
rs556066898	13:60,348,394	A/T	—	likely benign
rs761398957	13:60,348,399	T/A	—	likely benign
rs78933251	13:60,348,458	C/G	—	likely benign
rs376432274	13:60,348,873	G/A	—	uncertain significance
rs200654315	13:60,348,894	C/T	—	likely benign
rs201517886	13:60,348,895	G/A	—	conflicting classifications of pathogenicity
rs2038306884	13:60,348,903	G/T	—	uncertain significance
rs1295829065	13:60,348,934	C/T	—	uncertain significance
rs1245069375	13:60,348,954	C/G	—	uncertain significance
rs373358939	13:60,348,969	G/A	—	likely benign
rs1162783612	13:60,348,973	C/A	—	likely benign
rs2502168196	13:60,348,975	G/C	—	likely benign
rs73208932	13:60,349,174	C/T	—	benign
rs11838830	13:60,362,013	A/G	intron variant	—
rs11841641	13:60,362,163	C/T	intron variant	—
rs11838906	13:60,369,668	G/A	intron variant	—
rs746603687	13:60,384,935	T/C	—	likely benign
rs200684775	13:60,384,943	G/C	—	uncertain significance
rs79255785	13:60,384,954	T/C	—	conflicting classifications of pathogenicity
rs767533339	13:60,384,955	G/C	—	uncertain significance
rs200189161	13:60,384,960	C/T	—	conflicting classifications of pathogenicity
rs760815388	13:60,384,961	G/A	—	conflicting classifications of pathogenicity
rs371429652	13:60,384,964	C/T	—	uncertain significance
rs568088579	13:60,384,975	C/T	—	uncertain significance
rs541616926	13:60,385,003	C/T	—	uncertain significance
rs142015799	13:60,385,005	C/T	—	uncertain significance
rs2502465658	13:60,385,027	C/T	—	uncertain significance
rs1422171515	13:60,385,036	T/C	—	uncertain significance
rs1330526168	13:60,385,057	G/T	—	uncertain significance
rs758406681	13:60,385,067	T/A	—	likely benign
rs975879648	13:60,385,072	A/G	—	likely benign
rs73208953	13:60,385,250	C/T	—	benign
rs187130486	13:60,392,070	T/C	intron variant	—
rs341514	13:60,407,054	A/G	—	benign
rs141626456	13:60,407,170	C/T	—	benign
rs191777050	13:60,407,230	T/C	—	likely benign
rs1188964362	13:60,407,237	A/G	—	uncertain significance
rs759339741	13:60,407,240	C/A	—	uncertain significance
rs371248128	13:60,407,292	C/T	—	likely benign
rs754642174	13:60,407,323	A/G	—	conflicting classifications of pathogenicity
rs2502643410	13:60,407,345	C/A	—	uncertain significance
rs2139723667	13:60,407,348	T/C	—	uncertain significance
rs781747042	13:60,407,354	C/T	—	uncertain significance
rs374837449	13:60,407,377	T/C	—	uncertain significance
rs368173151	13:60,407,378	A/G	—	uncertain significance
rs2041875425	13:60,407,393	T/C	—	uncertain significance
rs761721396	13:60,407,396	T/A	—	uncertain significance
rs1029660130	13:60,407,408	A/G	—	uncertain significance
rs75391455	13:60,407,688	T/G	—	likely benign
rs144914766	13:60,413,207	C/T	—	likely benign
rs147468773	13:60,413,255	A/G	—	likely benign
rs776107505	13:60,413,463	T/A	—	uncertain significance
rs201024887	13:60,413,502	G/A	—	uncertain significance
rs199833209	13:60,413,543	C/G	—	uncertain significance
rs2139767745	13:60,413,547	T/A	—	likely benign
rs372502709	13:60,413,570	G/C	—	uncertain significance
rs769298730	13:60,413,576	A/G	—	uncertain significance
rs375809462	13:60,413,581	G/C	—	likely benign
rs867038222	13:60,435,447	G/A	—	uncertain significance

Showing 100 of 374 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.