ClinVar Miner

List of variants in gene KCNJ1 reported as likely pathogenic for Bartter syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) rs373745258 0.00003
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432 0.00003
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246 0.00002
NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp) rs779864905 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val)
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)
NM_153766.3(KCNJ1):c.504del (p.Lys168fs) rs769554073
NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln) rs1380025163
NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg) rs1411280373
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)

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