ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 104

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001286445.3(RIPOR2):c.2811T>C (p.Ser937=) rs9358804 0.74640
NM_001286445.3(RIPOR2):c.*7G>A rs9358799 0.44982
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) rs9461073 0.24950
NM_001286445.3(RIPOR2):c.3043+9T>A rs9379693 0.12477
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_001286445.3(RIPOR2):c.1498C>T (p.Arg500Ter)
NM_001286445.3(RIPOR2):c.189-1G>A rs875989828
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939

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