ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 102
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HGVS dbSNP
NC_000011.9:g.(?_2591838)_(2594236_?)dup
NM_000218.2(KCNQ1):c.114G>A (p.Leu38=) rs1386513213
NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln) rs1554932647
NM_000218.2(KCNQ1):c.192_200dup (p.Ser66_Ala68dup) rs750499842
NM_000218.2(KCNQ1):c.202_210GCCGCGCCC[1] (p.68_70AAP[1]) rs397508107
NM_000218.2(KCNQ1):c.274T>C (p.Ser92Pro)
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.317T>A (p.Val106Asp) rs1565023268
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.2(KCNQ1):c.38A>G (p.Lys13Arg) rs1060500622
NM_000218.2(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545
NM_181798.1(KCNQ1):c.1007G>C (p.Ser336Thr) rs184636161
NM_181798.1(KCNQ1):c.103G>A (p.Val35Met) rs199472692
NM_181798.1(KCNQ1):c.109_111GTG[3] (p.Val38dup) rs1554892886
NM_181798.1(KCNQ1):c.1134-7_1134-6insGC rs1554919460
NM_181798.1(KCNQ1):c.1139G>A (p.Arg380Gln) rs369571296
NM_181798.1(KCNQ1):c.114_116del (p.Phe40del)
NM_181798.1(KCNQ1):c.1151G>A (p.Arg384Gln) rs753962384
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His) rs199472788
NM_181798.1(KCNQ1):c.1216C>T (p.Arg406Trp) rs199472793
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.125C>T (p.Thr42Met) rs199472693
NM_181798.1(KCNQ1):c.1316C>A (p.Ser439Tyr) rs199472804
NM_181798.1(KCNQ1):c.1339A>G (p.Ile447Val) rs761947465
NM_181798.1(KCNQ1):c.133G>A (p.Val45Met) rs199472694
NM_181798.1(KCNQ1):c.133G>C (p.Val45Leu)
NM_181798.1(KCNQ1):c.1352-7C>G
NM_181798.1(KCNQ1):c.1367G>A (p.Arg456His) rs199473482
NM_181798.1(KCNQ1):c.1400G>C (p.Arg467Pro) rs199472815
NM_181798.1(KCNQ1):c.1413G>A (p.Lys471=)
NM_181798.1(KCNQ1):c.143T>C (p.Leu48Pro)
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.1455G>A (p.Met485Ile) rs878853756
NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser) rs199472820
NM_181798.1(KCNQ1):c.1521C>T (p.Gly507=) rs774046442
NM_181798.1(KCNQ1):c.1605C>G (p.Tyr535Ter) rs11601907
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) rs199473399
NM_181798.1(KCNQ1):c.182G>C (p.Trp61Ser)
NM_181798.1(KCNQ1):c.188G>C (p.Arg63Pro) rs120074178
NM_181798.1(KCNQ1):c.193C>T (p.Arg65Cys)
NM_181798.1(KCNQ1):c.194G>A (p.Arg65His) rs199472698
NM_181798.1(KCNQ1):c.202C>T (p.Arg68Trp) rs150172393
NM_181798.1(KCNQ1):c.203G>A (p.Arg68Gln) rs138362632
NM_181798.1(KCNQ1):c.209C>A (p.Pro70His) rs200108320
NM_181798.1(KCNQ1):c.209C>T (p.Pro70Leu) rs200108320
NM_181798.1(KCNQ1):c.263T>G (p.Val88Gly) rs368011737
NM_181798.1(KCNQ1):c.296C>T (p.Ala99Val) rs199472707
NM_181798.1(KCNQ1):c.320A>G (p.Gln107Arg) rs794728570
NM_181798.1(KCNQ1):c.320A>T (p.Gln107Leu) rs794728570
NM_181798.1(KCNQ1):c.340G>T (p.Val114Phe) rs199956744
NM_181798.1(KCNQ1):c.345C>A (p.Asp115Glu)
NM_181798.1(KCNQ1):c.346C>A (p.Arg116Ser) rs199472713
NM_181798.1(KCNQ1):c.361T>C (p.Trp121Arg) rs199473459
NM_181798.1(KCNQ1):c.376T>C (p.Ser126Pro) rs764781840
NM_181798.1(KCNQ1):c.422T>G (p.Ile141Ser) rs199472725
NM_181798.1(KCNQ1):c.437T>C (p.Leu146Pro) rs199472727
NM_181798.1(KCNQ1):c.455T>G (p.Phe152Cys)
NM_181798.1(KCNQ1):c.458T>A (p.Val153Glu) rs199473462
NM_181798.1(KCNQ1):c.466G>C (p.Ala156Pro) rs1060500627
NM_181798.1(KCNQ1):c.469G>A (p.Glu157Lys) rs199472734
NM_181798.1(KCNQ1):c.478G>A (p.Ala160Thr)
NM_181798.1(KCNQ1):c.47C>T (p.Ser16Phe) rs786204083
NM_181798.1(KCNQ1):c.494G>A (p.Gly165Asp) rs199472736
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.518C>A (p.Ala173Glu) rs1001293702
NM_181798.1(KCNQ1):c.524C>A (p.Ala175Glu) rs193922365
NM_181798.1(KCNQ1):c.541-3C>A rs794728515
NM_181798.1(KCNQ1):c.551_553CCA[1] (p.Thr185del) rs1564824264
NM_181798.1(KCNQ1):c.556A>T (p.Ile186Phe)
NM_181798.1(KCNQ1):c.577C>T (p.Pro193Ser) rs199472753
NM_181798.1(KCNQ1):c.6-5T>A rs794728549
NM_181798.1(KCNQ1):c.635T>A (p.Phe212Tyr) rs199472759
NM_181798.1(KCNQ1):c.644T>A (p.Leu215His) rs794728522
NM_181798.1(KCNQ1):c.648_650dup (p.Ala217dup) rs794728559
NM_181798.1(KCNQ1):c.651+5G>T
NM_181798.1(KCNQ1):c.67G>A (p.Ala23Thr)
NM_181798.1(KCNQ1):c.688C>G (p.Gln230Glu) rs1554894743
NM_181798.1(KCNQ1):c.730G>C (p.Ala244Pro) rs199473412
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) rs199472767
NM_181798.1(KCNQ1):c.747+4C>T rs201590918
NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) rs199472768
NM_181798.1(KCNQ1):c.757A>T (p.Arg253Trp)
NM_181798.1(KCNQ1):c.77C>T (p.Thr26Met) rs143709408
NM_181798.1(KCNQ1):c.784T>G (p.Ser262Ala)
NM_181798.1(KCNQ1):c.784_785inv (p.Ser262Asp)
NM_181798.1(KCNQ1):c.797A>T (p.Lys266Met) rs199472775
NM_181798.1(KCNQ1):c.812A>G (p.Lys271Arg) rs199472777
NM_181798.1(KCNQ1):c.817C>G (p.Pro273Ala) rs1489132337
NM_181798.1(KCNQ1):c.820C>T (p.Arg274Trp) rs766616232
NM_181798.1(KCNQ1):c.824G>A (p.Ser275Asn) rs878853753
NM_181798.1(KCNQ1):c.870+5G>A rs1564826087
NM_181798.1(KCNQ1):c.905A>G (p.Asn302Ser) rs1464968488
NM_181798.1(KCNQ1):c.940C>T (p.Pro314Ser) rs199473475
NM_181798.1(KCNQ1):c.94A>T (p.Met32Leu)
NM_181798.1(KCNQ1):c.962C>A (p.Pro321Gln) rs12720449
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381
NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) rs145229963
NM_181798.1(KCNQ1):c.997G>A (p.Gly333Ser) rs199472783

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