ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967
NM_004086.3(COCH):c.1477+9C>A rs17097458
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468
NM_004086.3(COCH):c.239+5G>A rs563163157
NM_004086.3(COCH):c.630-9T>C rs368182881

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