ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

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