List of variants in gene combination KCNQ1, KCNQ1OT1 studied for Congenital long QT syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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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.1393+22646C>G	rs146407692	0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T	rs72847701	0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T	rs72850203	0.00923
NM_000218.3(KCNQ1):c.1514+4974G>A	rs188083723	0.00530
NM_000218.3(KCNQ1):c.1514+3G>A	rs374767819	0.00003
NM_000218.3(KCNQ1):c.1514+9C>T	rs770840921	0.00001
NM_000218.3(KCNQ1):c.1394-8C>T	rs371488379
NM_000218.3(KCNQ1):c.1430C>T (p.Pro477Leu)	rs199472784
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)	rs397508091

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