List of variants in gene KCNQ1 reported as likely pathogenic by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)	rs199473482	0.00004
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)	rs199472796	0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)	rs199472813	0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)	rs199472737	0.00002
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)	rs775362401
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)	rs17215500
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)	rs199472805
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)	rs794728536
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)	rs1554958092
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro)	rs199472720
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys)	rs199472755
NM_001406838.1(KCNQ1):c.478-12807del	rs1848316236

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