ClinVar Miner

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

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Total variants: 9
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NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327
NM_004086.3(COCH):c.1436A>T (p.Tyr479Phe)
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606
NM_004086.3(COCH):c.615C>T (p.Gly205=)
NM_004086.3(COCH):c.629+5C>T rs202109231
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775

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