ClinVar Miner

List of variants in gene KCNJ6 reported as uncertain significance by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002240.5(KCNJ6):c.76G>T (p.Ala26Ser) rs1064796826 0.00003
NM_002240.5(KCNJ6):c.356G>T (p.Gly119Val) rs762020565 0.00001
NM_002240.5(KCNJ6):c.1105G>A (p.Glu369Lys)
NM_002240.5(KCNJ6):c.1129_1130delinsAA (p.Ala377Lys) rs2518150221
NM_002240.5(KCNJ6):c.1189A>C (p.Thr397Pro)
NM_002240.5(KCNJ6):c.1211T>C (p.Leu404Pro)
NM_002240.5(KCNJ6):c.139G>A (p.Asp47Asn) rs2123452116
NM_002240.5(KCNJ6):c.181G>T (p.Gly61Ter)
NM_002240.5(KCNJ6):c.227_234dup (p.Asp79delinsThrTer)
NM_002240.5(KCNJ6):c.2T>C (p.Met1Thr) rs2518262825
NM_002240.5(KCNJ6):c.302_303del (p.Thr101fs)
NM_002240.5(KCNJ6):c.307A>G (p.Thr103Ala)
NM_002240.5(KCNJ6):c.347A>G (p.Tyr116Cys) rs2518197065
NM_002240.5(KCNJ6):c.347A>T (p.Tyr116Phe) rs2518197065
NM_002240.5(KCNJ6):c.355G>T (p.Gly119Ter) rs1556023598
NM_002240.5(KCNJ6):c.455C>T (p.Thr152Ile)
NM_002240.5(KCNJ6):c.472C>T (p.Arg158Trp) rs2123451821
NM_002240.5(KCNJ6):c.491G>T (p.Cys164Phe) rs2518196956
NM_002240.5(KCNJ6):c.584A>C (p.Gln195Pro) rs2518196847
NM_002240.5(KCNJ6):c.701del (p.Glu234fs) rs2123451684
NM_002240.5(KCNJ6):c.896A>G (p.Lys299Arg)
NM_002240.5(KCNJ6):c.974dup (p.Tyr325Ter) rs2123361574

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