List of variants in gene KCNQ1 studied for KCNQ1-Related Disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)	rs138362632	0.00008
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	rs17221854	0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	rs12720458	0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456	0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	rs199472720	0.00001
NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter)	rs1554894743
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)	rs11601907
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	rs397508118
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp)	rs199472708
NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter)	rs1848346228

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