List of variants in gene KCNQ1 reported as likely pathogenic by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	rs12720458	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	rs199472697	0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456	0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)	rs199472730	0.00001
NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg)	rs199473471
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	rs397508075
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)	rs199472767
NM_000218.3(KCNQ1):c.1257del (p.Lys422fs)	rs1554895166
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter)	rs794728527
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser)	rs199472789
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	rs199472804
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	rs397508118
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro)	rs199472699
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)	rs199472712
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	rs199472719
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	rs199473460
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)	rs199472756

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