ClinVar Miner

List of variants in gene KCNJ11 reported by GeneDx

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*441T>C rs2285676 0.43747
NM_001166290.2(KCNJ11):c.-17+438G>A rs5222 0.43622
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000525.4(KCNJ11):c.*376C>T rs5208 0.01164
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_000525.4(KCNJ11):c.*92C>T rs5212 0.00626
NM_000525.4(KCNJ11):c.*288G>A rs5209 0.00590
NM_000525.4(KCNJ11):c.*487A>G rs79457490 0.00588
NM_000525.4(KCNJ11):c.*1168G>A rs182349583 0.00391
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His) rs988002138 0.00006
NM_000525.4(KCNJ11):c.903C>T (p.Arg301=) rs200855007 0.00005
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His) rs774714794 0.00004
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.-507del rs35513985
NM_000525.4(KCNJ11):c.1019C>A (p.Pro340His)
NM_000525.4(KCNJ11):c.1037C>T (p.Ala346Val)
NM_000525.4(KCNJ11):c.1056C>A (p.Asp352Glu)
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.317C>T (p.Thr106Ile)
NM_000525.4(KCNJ11):c.335C>A (p.Thr112Asn)
NM_000525.4(KCNJ11):c.344A>T (p.His115Leu)
NM_000525.4(KCNJ11):c.412G>T (p.Val138Leu) rs1267732986
NM_000525.4(KCNJ11):c.526C>G (p.Arg176Gly)
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.848T>A (p.Ile283Asn)
NM_000525.4(KCNJ11):c.945T>G (p.Phe315Leu) rs2133379120
NM_000525.4(KCNJ11):c.949C>T (p.Pro317Ser)
NM_000525.4(KCNJ11):c.974G>A (p.Arg325His)
NM_000525.4(KCNJ11):c.980C>A (p.Ser327Tyr) rs1554901583

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