ClinVar Miner

List of variants in gene KCNQ1 reported as benign for short QT syndrome

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Total variants: 8
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HGVS dbSNP
NM_000218.2(KCNQ1):c.*479G>A rs2519184
NM_000218.2(KCNQ1):c.*875A>G rs8234
NM_000218.2(KCNQ1):c.*932A>G rs10798
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1638G>A (p.Ser546=) rs1057128
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.2(KCNQ1):c.478-10G>A rs28730752

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