List of variants in gene KCNQ1 reported as pathogenic for Jervell and Lange-Nielsen syndrome 1

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	rs120074190	0.00006
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	rs120074196	0.00001
KCNQ1, IVS1
NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)	rs1554958045
NM_000218.3(KCNQ1):c.1534del (p.Ala512fs)	rs1554919471
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs)	rs397515637
NM_000218.3(KCNQ1):c.1732+5del	rs1554920833
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	rs120074189
NM_000218.3(KCNQ1):c.1795-2A>G	rs867564993
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)	rs397508103
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)	rs397508110
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)	rs397508117
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)	rs1554893092
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)	rs120074186
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	rs120074186

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