List of variants in gene combination KCNQ1, KCNQ1OT1 reported as pathogenic for 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NC_000011.10:g.(?_2527918)_(2848935_?)del
NC_000011.9:g.(?_2466329)_(2869233_?)del
NC_000011.9:g.(?_2591848)_(2683321_?)del
NC_000011.9:g.(?_2683171)_(2683331_?)del
NC_000011.9:g.(?_2683186)_(2683314_?)del
NM_000218.3(KCNQ1):c.1394-1G>C	rs775537394
NM_000218.3(KCNQ1):c.1394-1G>T	rs775537394
NM_000218.3(KCNQ1):c.1394-2A>G	rs2133855926
NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs)	rs1554903804
NM_000218.3(KCNQ1):c.1446del (p.Asn483fs)	rs794728558
NM_000218.3(KCNQ1):c.1476del (p.Glu494fs)
NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs)	rs878854349
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)	rs397508090
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)	rs397508091

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