ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic by GeneDx

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Total variants: 66
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1009A>T (p.Ile337Phe) rs794728520
NM_000218.2(KCNQ1):c.1029_1031dup (p.Ala344dup) rs794728559
NM_000218.2(KCNQ1):c.1030G>A (p.Ala344Thr) rs1554894481
NM_000218.2(KCNQ1):c.1031C>G (p.Ala344Gly) rs199472763
NM_000218.2(KCNQ1):c.1032+1G>A rs397508070
NM_000218.2(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.2(KCNQ1):c.1076A>C (p.Gln359Pro) rs1085307965
NM_000218.2(KCNQ1):c.1078A>T (p.Arg360Trp) rs199473406
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1123A>T (p.Ile375Phe) rs794728526
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376
NM_000218.2(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.2(KCNQ1):c.1190G>A (p.Arg397Gln) rs374090960
NM_000218.2(KCNQ1):c.124G>T (p.Glu42Ter) rs1554958047
NM_000218.2(KCNQ1):c.1251+2T>C rs794728528
NM_000218.2(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.2(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.2(KCNQ1):c.1545G>T (p.Lys515Asn) rs794728532
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.2(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.2(KCNQ1):c.1682G>A (p.Arg561Lys) rs794728534
NM_000218.2(KCNQ1):c.1686delG rs794728562
NM_000218.2(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.1763T>C (p.Ile588Thr) rs794728576
NM_000218.2(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.20del (p.Pro7fs) rs1554958030
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.373T>G (p.Tyr125Asp) rs794728578
NM_000218.2(KCNQ1):c.374A>G (p.Tyr125Cys) rs1131691513
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.2(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.2(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.2(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959
NM_000218.2(KCNQ1):c.464_465CT[2] (p.Phe157fs) rs1064795333
NM_000218.2(KCNQ1):c.477+5G>C rs397508111
NM_000218.2(KCNQ1):c.496_498TTC[1] (p.Phe167del) rs794728555
NM_000218.2(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.2(KCNQ1):c.526T>C (p.Trp176Arg) rs1554892900
NM_000218.2(KCNQ1):c.536G>C (p.Gly179Ala) rs76737438
NM_000218.2(KCNQ1):c.550T>C (p.Tyr184His) rs199473661
NM_000218.2(KCNQ1):c.550T>G (p.Tyr184Asp) rs199473661
NM_000218.2(KCNQ1):c.556G>T (p.Gly186Cys) rs199473398
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.589C>T (p.Pro197Ser) rs794728510
NM_000218.2(KCNQ1):c.603_604+9delCGGTGAGTCAT rs794728580
NM_000218.2(KCNQ1):c.622del (p.Ala208fs) rs1064794538
NM_000218.2(KCNQ1):c.679A>C (p.Ile227Leu) rs794728511
NM_000218.2(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.2(KCNQ1):c.707T>G (p.Leu236Arg) rs794728512
NM_000218.2(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.2(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.2(KCNQ1):c.758C>T (p.Ser253Phe) rs794728513
NM_000218.2(KCNQ1):c.781G>C (p.Glu261Gln) rs199472722
NM_000218.2(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.2(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514
NM_000218.2(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.2(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.2(KCNQ1):c.919_921+9del rs794728557
NM_000218.2(KCNQ1):c.921G>A (p.Val307=) rs397508131
NM_000218.2(KCNQ1):c.928G>A (p.Val310Ile) rs199472745
NM_000218.2(KCNQ1):c.974G>A (p.Gly325Glu) rs794728519

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