ClinVar Miner

List of variants in gene COCH, LOC100506071 studied for Nonsyndromic genetic hearing loss

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606 0.00055
NM_004086.3(COCH):c.1184A>G (p.Lys395Arg)
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004086.3(COCH):c.460G>T (p.Glu154Ter)

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