List of variants in gene KCNQ1 reported as benign 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.*932A>G	rs10798	0.38574
NM_000218.3(KCNQ1):c.*875A>G	rs8234	0.38150
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)	rs1057128	0.16679
NM_000218.3(KCNQ1):c.*479G>A	rs2519184	0.10424
NM_000218.3(KCNQ1):c.1590+14T>C	rs11024034	0.07704
NM_000218.3(KCNQ1):c.478-10G>A	rs28730752	0.04910
NM_000218.3(KCNQ1):c.*411C>T	rs45460605	0.03555
NM_000218.3(KCNQ1):c.*482G>A	rs45510192	0.02395
NM_000218.3(KCNQ1):c.*742G>A	rs114844136	0.02240
NM_000218.3(KCNQ1):c.*264T>C	rs45579540	0.01143
NM_000218.3(KCNQ1):c.477+9C>T	rs28730664	0.01074
NM_000218.3(KCNQ1):c.*219G>A	rs45477500	0.01002
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)	rs34150427	0.00680
NM_000218.3(KCNQ1):c.*350G>A	rs114877430	0.00527
NM_000218.3(KCNQ1):c.*305A>C	rs45570140	0.00137
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=)	rs201698592	0.00005
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)	rs12720449
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)	rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)	rs11601907

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