ClinVar Miner

List of variants in gene KCNJ11 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=) rs770408379 0.00016
NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys) rs201264306 0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=) rs114899765 0.00004
NM_000525.4(KCNJ11):c.-291G>T rs1027378927 0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu) rs756424776 0.00002
NM_000525.4(KCNJ11):c.805G>A (p.Asp269Asn) rs756552714 0.00002
NM_000525.4(KCNJ11):c.-111C>T rs994122287 0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met) rs1282255458 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.969C>T (p.Asp323=) rs1272384074 0.00001
NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys) rs763728797 0.00001
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-216G>T rs561579833
NM_000525.4(KCNJ11):c.-314dup rs781416603
NM_000525.4(KCNJ11):c.-507dup rs35513985
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.179T>C (p.Phe60Ser) rs387906783
NM_000525.4(KCNJ11):c.248G>C (p.Trp83Ser) rs2133380675
NM_000525.4(KCNJ11):c.490C>T (p.Leu164Phe) rs1554901796
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_001166290.2(KCNJ11):c.-17+477_-17+478delinsTT rs2133381941

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