ClinVar Miner

List of variants in gene KCNJ11 reported as pathogenic for not provided

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.4(KCNJ11):c.136C>T (p.His46Tyr)
NM_000525.4(KCNJ11):c.148C>G (p.Arg50Gly)
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.4(KCNJ11):c.151G>T (p.Glu51Ter)
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) rs1953591118
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.238del (p.Leu80fs) rs1953589834
NM_000525.4(KCNJ11):c.279dup (p.Ala94fs)
NM_000525.4(KCNJ11):c.317del (p.Thr106fs)
NM_000525.4(KCNJ11):c.31G>T (p.Glu11Ter)
NM_000525.4(KCNJ11):c.331_332del (p.Val111fs) rs2133380463
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter) rs104894236
NM_000525.4(KCNJ11):c.393del (p.Ile131fs)
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.407G>T (p.Arg136Leu) rs1479483693
NM_000525.4(KCNJ11):c.491T>C (p.Leu164Pro)
NM_000525.4(KCNJ11):c.554_557dup (p.His186fs)
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp) rs2133380076
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His) rs1554901747
NM_000525.4(KCNJ11):c.62del (p.Pro21fs)
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys) rs587783673
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala) rs193929352
NM_000525.4(KCNJ11):c.813_814insT (p.Pro272fs)
NM_000525.4(KCNJ11):c.901C>G (p.Arg301Gly) rs377091338
NM_000525.4(KCNJ11):c.902G>C (p.Arg301Pro) rs74339576
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356

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