ClinVar Miner

List of variants in gene KCNQ1, KCNQ1OT1 studied for Cardiovascular phenotype

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) rs1205552952 0.00015
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) rs200275211 0.00009
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) rs778041701 0.00001
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val) rs189794855 0.00001
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1420G>T (p.Val474Leu)
NM_000218.3(KCNQ1):c.1426A>G (p.Met476Val) rs794728529
NM_000218.3(KCNQ1):c.1439T>C (p.Met480Thr)
NM_000218.3(KCNQ1):c.1457C>T (p.Ala486Val)
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu) rs1254052516
NM_000218.3(KCNQ1):c.1478G>C (p.Gly493Ala)
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1514+1G>A rs397508093

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