ClinVar Miner

List of variants in gene STRC reported as pathogenic for auditory system disorder

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
15q15.3 deletion
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
NM_153700.2(STRC):c.1030C>T (p.Arg344Ter)
NM_153700.2(STRC):c.2171_2174del (p.Val724fs) rs786200883
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
NM_153700.2(STRC):c.3156dup (p.Cys1053fs) rs786200882
NM_153700.2(STRC):c.3499_4701+1del
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter) rs1410072763
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.583C>T (p.Gln195Ter) rs774990944
NM_153700.2(STRC):c.[4057C>T];[4171C>G]
NM_153700.2:c.(?_1)_(5328_?)del
NM_153700.2:c.(?_3499)_(4993_?)del

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