ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal recessive 16

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Total variants: 6
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HGVS dbSNP
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter) rs763904943
NM_153700.2(STRC):c.4701+1G>A rs199839039

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