ClinVar Miner

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

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Total variants: 11
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NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1535T>C (p.Met512Thr) rs121908934
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr) rs121908932
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004086.3(COCH):c.197T>G (p.Val66Gly) rs121908927
NM_004086.3(COCH):c.263G>A (p.Gly88Glu) rs121908928
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) rs121908930
NM_004086.3(COCH):c.349T>C (p.Trp117Arg) rs121908929
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931

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