ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_004086.3(COCH):c.*10T>A rs886050443
NM_004086.3(COCH):c.108C>T (p.Thr36=)
NM_004086.3(COCH):c.126G>A (p.Arg42=)
NM_004086.3(COCH):c.1478-10T>C rs371990593
NM_004086.3(COCH):c.266C>A (p.Pro89His)
NM_004086.3(COCH):c.293G>A (p.Arg98Gln)
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn)
NM_004086.3(COCH):c.329A>G (p.Gln110Arg)
NM_004086.3(COCH):c.961-8C>T rs753785426
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866
NM_004086.3(COCH):c.981C>G (p.Gly327=) rs769184887

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