List of variants in gene KCNE1 studied for Jervell and Lange-Nielsen syndrome

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_000219.5(KCNE1):c.-577C>T	rs11702354	0.23004
NM_000219.6(KCNE1):c.1226_1229del	rs551512090	0.00693
NM_000219.5(KCNE1):c.-628A>G	rs76210431	0.00186
NM_000219.5(KCNE1):c.-605G>A	rs780282543	0.00008
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	rs74315445	0.00005
NM_000219.5(KCNE1):c.-561C>T	rs886057028	0.00004
NM_000219.6(KCNE1):c.*457G>A	rs886057024	0.00003
NM_000219.6(KCNE1):c.*1547dup	rs11373310
NM_000219.6(KCNE1):c.*1583A>C	rs886057018
NM_000219.6(KCNE1):c.*91del	rs748419617
NM_000219.6(KCNE1):c.*946del	rs142762112

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