ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 31
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HGVS dbSNP
NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.175C>G (p.Pro59Ala) rs1554958059
NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_181798.1(KCNQ1):c.1139G>A (p.Arg380Gln) rs369571296
NM_181798.1(KCNQ1):c.1174C>T (p.Arg392Cys) rs199472787
NM_181798.1(KCNQ1):c.1197G>T (p.Lys399Asn) rs1554919483
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.133G>A (p.Val45Met) rs199472694
NM_181798.1(KCNQ1):c.1387G>C (p.Ala463Pro) rs199472813
NM_181798.1(KCNQ1):c.1441C>G (p.Leu481Val) rs1554932663
NM_181798.1(KCNQ1):c.1495G>A (p.Gly499Ser) rs199472821
NM_181798.1(KCNQ1):c.154G>A (p.Gly52Ser) rs199473394
NM_181798.1(KCNQ1):c.203G>A (p.Arg68Gln) rs138362632
NM_181798.1(KCNQ1):c.248T>C (p.Met83Thr) rs886038994
NM_181798.1(KCNQ1):c.419A>T (p.Tyr140Phe) rs886039033
NM_181798.1(KCNQ1):c.479C>A (p.Ala160Glu) rs199472735
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.49A>G (p.Thr17Ala) rs199473451
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.541-3C>A rs794728515
NM_181798.1(KCNQ1):c.604G>A (p.Ala202Thr) rs543428644
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) rs199472767
NM_181798.1(KCNQ1):c.77C>T (p.Thr26Met) rs143709408
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.817C>G (p.Pro273Ala) rs1489132337
NM_181798.1(KCNQ1):c.959C>A (p.Pro320His) rs143149582
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381
NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) rs145229963

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