List of variants in gene KCNE1 reported as pathogenic

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_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	rs1805128	0.00841
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	rs74315445	0.00005
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)	rs74315446	0.00001
NC_000021.8:g.(?_35821543)_(35821932_?)del
NG_009091.1(KCNE1):g.[66853A>C;66857T>C]	rs281865421
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)	rs1131691762
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter)	rs758346045
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)	rs199473354
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)	rs199473645
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu)	rs2123460074
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs)	rs1555843953
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile)	rs28933384
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)	rs1555843898
NM_000219.6(KCNE1):c.230del (p.Pro77fs)	rs2123457833
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)	rs199473362
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter)	rs779124360
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter)	rs1244688796
NM_000219.6(KCNE1):c.94dup (p.Arg32fs)	rs1601044831

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