ClinVar Miner

List of variants in gene KCNJ10 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_002241.5(KCNJ10):c.*1032G>A rs17375748 0.04538
NM_002241.5(KCNJ10):c.*413G>A rs79238495 0.02238
NM_002241.5(KCNJ10):c.*1430C>T rs114242410 0.02236
NM_002241.5(KCNJ10):c.*3250G>C rs74855057 0.01694
NM_002241.5(KCNJ10):c.*1498T>G rs75316108 0.01585
NM_002241.5(KCNJ10):c.*93C>T rs114052043 0.01296
NM_002241.5(KCNJ10):c.*1368C>T rs73021683 0.00847
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=) rs151068619 0.00008
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) rs368537434 0.00006
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=) rs776805483 0.00006
NM_002241.5(KCNJ10):c.-43G>A rs372841245 0.00004
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976 0.00004
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787 0.00002
NM_002241.5(KCNJ10):c.*1027C>T rs12067668
NM_002241.5(KCNJ10):c.*1813C>A rs78280261
NM_002241.5(KCNJ10):c.*1970GT[23] rs56656397
NM_002241.5(KCNJ10):c.*89C>T rs115130978
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=) rs1471561944

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