CLRN2
clarin 2
Summary
This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371984226 | 4:17,516,897 | G/T | — | uncertain significance |
| rs766570551 | 4:17,516,910 | G/C | — | uncertain significance |
| rs2474688391 | 4:17,516,950 | T/G | — | uncertain significance |
| rs778262729 | 4:17,516,965 | G/A | — | uncertain significance |
| rs368869685 | 4:17,517,089 | G/A | — | uncertain significance |
| rs200819557 | 4:17,517,095 | G/A | — | uncertain significance |
| rs762292714 | 4:17,517,124 | C/T | — | uncertain significance |
| rs200144103 | 4:17,517,125 | G/T | — | uncertain significance |
| rs28382333 | 4:17,517,242 | C/T | upstream gene variant | — |
| rs546983141 | 4:17,521,633 | G/A | — | — |
| rs28458311 | 4:17,523,907 | A/T | intron variant | — |
| rs13147559 | 4:17,524,570 | C/G | — | benign |
| rs777976596 | 4:17,524,630 | G/C | — | uncertain significance |
| rs369973835 | 4:17,524,663 | G/A | — | uncertain significance |
| rs200173085 | 4:17,528,479 | C/T | — | uncertain significance |
| rs1711990645 | 4:17,528,500 | C/A | — | pathogenic |
| rs371123075 | 4:17,528,539 | T/C | — | uncertain significance |
| rs1177776427 | 4:17,528,553 | G/A | — | uncertain significance |
| rs929818039 | 4:17,528,583 | G/A | — | uncertain significance |
| rs762164219 | 4:17,528,596 | C/T | — | likely benign |
| rs201124485 | 4:17,528,602 | A/T | — | likely benign |
| rs765699475 | 4:17,528,619 | G/T | — | uncertain significance |
| rs2474697709 | 4:17,528,655 | A/C | — | uncertain significance |
| rs201470083 | 4:17,528,677 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.