ClinVar Miner

List of variants in gene ADGRV1 reported as pathogenic for Usher syndrome type 2A

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs) rs1755899012
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer) rs780664266
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=) rs1765197280
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs) rs1764920338

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