ClinVar Miner

List of variants in gene STRC studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
15q15.3 deletion
GRCh37/hg19 15q15.3(chr15:43892948-43895542)x1
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
NM_153700.2(STRC):c.1576C>T (p.Arg526Cys) rs1555447608
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509
NM_153700.2(STRC):c.2171_2174del (p.Val724fs) rs786200883
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_153700.2(STRC):c.3091C>A (p.Pro1031Thr) rs1595961729
NM_153700.2(STRC):c.3156dup (p.Cys1053fs) rs786200882
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182
NM_153700.2(STRC):c.3499_4701+1del
NM_153700.2(STRC):c.379C>T (p.Arg127Ter) rs771264491
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296
NM_153700.2(STRC):c.4057C>T rs774312182
NM_153700.2(STRC):c.4171C>G rs376104748
NM_153700.2(STRC):c.4219-1G>A rs748854592
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
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
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791
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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