List of variants in gene KCNQ1 reported as 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.520C>T (p.Arg174Cys)	rs199472696	0.00001
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	rs199472807
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)	rs397508125
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)	rs397508127

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