ClinVar Miner

List of variants in gene combination COCH, LOC100506071 reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 9

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004086.3(COCH):c.266C>A (p.Pro89His) rs149903169 0.00009
NM_004086.3(COCH):c.961-8C>T rs753785426 0.00008
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866 0.00004
NM_004086.3(COCH):c.1478-10T>C rs371990593 0.00003
NM_004086.3(COCH):c.293G>A (p.Arg98Gln) rs764704351 0.00002
NM_004086.3(COCH):c.108C>T (p.Thr36=) rs372237012 0.00001
NM_004086.3(COCH):c.*10T>A rs886050443
NM_004086.3(COCH):c.113G>A (p.Gly38Asp) rs1391189162
NM_004086.3(COCH):c.126G>A (p.Arg42=) rs146115619
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn) rs1895469264
NM_004086.3(COCH):c.329A>G (p.Gln110Arg) rs1281507766
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)
NM_004086.3(COCH):c.981C>G (p.Gly327=) rs769184887

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