List of variants in gene KCNQ1 reported as likely pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456	0.00001
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)	rs1800171
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	rs199472804
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)	rs74462309

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