List of variants in gene KCNQ1 reported as pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	rs199472795	0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456	0.00001
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)	rs397508068
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	rs199473411
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)	rs199472768
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	rs120074189
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	rs179489
NM_000218.3(KCNQ1):c.603_604+9del	rs794728580
NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro)	rs199472823
NM_000218.3(KCNQ1):c.919_921+9del	rs794728557

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