ClinVar Miner

List of variants in gene combination KCNQ1, KCNQ1OT1 reported as benign for short QT syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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.1394-8C>T rs371488379

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