ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Long QT syndrome 1

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Total variants: 9
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1016T>A (p.Phe339Tyr) rs199472759
NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.1541T>C (p.Ile514Thr) rs199472786
NM_000218.2(KCNQ1):c.1709C>T (p.Pro570Leu)
NM_000218.2(KCNQ1):c.1970A>G (p.Asn657Ser) rs552087428
NM_000218.2(KCNQ1):c.1996A>C (p.Thr666Pro) rs1564916586
NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676
NM_000218.2(KCNQ1):c.523C>T (p.Leu175Phe) rs1131692322
NM_000218.2(KCNQ1):c.556G>A (p.Gly186Ser) rs199473398

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