ClinVar Miner

Variants in gene KCNJ10 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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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.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) rs387906834
NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg) rs137853072
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002241.5(KCNJ10):c.626T>C (p.Ile209Thr) rs1404425302

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