ClinVar Miner

List of variants in gene combination KCNQ1, KCNQ1OT1 reported as benign for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.1514+18C>T rs12577654 0.00444
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.1394-18C>G rs543054197 0.00001
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379

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