ClinVar Miner

List of variants in gene KCNJ2 reported as pathogenic for not provided

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala) rs199473377
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.779G>C (p.Arg260Pro) rs199473385
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu) rs786205818
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val) rs786205818
NM_000891.3(KCNJ2):c.902T>G (p.Met301Arg) rs876661184
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820

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