ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) rs137853073
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067

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