List of variants in gene KCNQ1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 9

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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.1032G>A (p.Ala344=)	rs1800171	0.00001
NM_000218.3(KCNQ1):c.477+5G>A	rs397508111	0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)	rs120074194	0.00001
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)	rs12720459
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	rs397508120
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	rs120074193

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