ClinVar Miner

List of variants in gene KCNJ2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met) rs144022753 0.00004
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=) rs771056622 0.00004
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
NM_000891.3(KCNJ2):c.941C>T (p.Ser314Phe) rs1598211503

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