ClinVar Miner

List of variants in gene KCNE1 reported as likely benign for Long QT syndrome

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Total variants: 49
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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.*1226_*1229del rs551512090 0.00693
NM_000219.5(KCNE1):c.-628A>G rs76210431 0.00186
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser) rs778439872 0.00018
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro) rs567021150 0.00013
NM_000219.6(KCNE1):c.225C>T (p.Asn75=) rs79175878 0.00009
NM_000219.6(KCNE1):c.252C>T (p.Ser84=) rs138884514 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000219.6(KCNE1):c.138C>T (p.Tyr46=) rs758346045 0.00006
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344 0.00005
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144 0.00005
NM_000219.6(KCNE1):c.222G>A (p.Ser74=) rs766767618 0.00004
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351 0.00003
NM_000219.6(KCNE1):c.297C>G (p.Val99=) rs780553669 0.00003
NM_000219.6(KCNE1):c.324C>T (p.Val108=) rs200684060 0.00003
NM_000219.6(KCNE1):c.117C>T (p.Asp39=) rs368465967 0.00002
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) rs727503101 0.00002
NM_000219.6(KCNE1):c.298C>T (p.Leu100=) rs140643047 0.00002
NM_000219.6(KCNE1):c.312G>A (p.Arg104=) rs746628151 0.00002
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu) rs780041404 0.00002
NM_000219.6(KCNE1):c.375G>A (p.Thr125=) rs767686634 0.00002
NM_000219.6(KCNE1):c.9G>A (p.Leu3=) rs868666103 0.00002
NM_000219.6(KCNE1):c.237C>T (p.Asn79=) rs746345034 0.00001
NM_000219.6(KCNE1):c.246C>T (p.Ile82=) rs555086287 0.00001
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299 0.00001
NM_000219.6(KCNE1):c.78C>T (p.Asn26=) rs201604169 0.00001
NM_000219.6(KCNE1):c.*946del rs142762112
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
NM_000219.6(KCNE1):c.120C>T (p.Gly40=) rs756778741
NM_000219.6(KCNE1):c.124C>T (p.Leu42=)
NM_000219.6(KCNE1):c.175C>T (p.Leu59=) rs754731040
NM_000219.6(KCNE1):c.183C>T (p.Ile61=) rs2123458313
NM_000219.6(KCNE1):c.189G>T (p.Leu63=) rs1057521237
NM_000219.6(KCNE1):c.207G>A (p.Lys69=)
NM_000219.6(KCNE1):c.216G>A (p.Glu72=)
NM_000219.6(KCNE1):c.219C>T (p.His73=)
NM_000219.6(KCNE1):c.288G>A (p.Gln96=)
NM_000219.6(KCNE1):c.292C>A (p.Arg98=) rs199473362
NM_000219.6(KCNE1):c.294G>T (p.Arg98=)
NM_000219.6(KCNE1):c.315G>C (p.Ser105=)
NM_000219.6(KCNE1):c.327T>G (p.Val109=) rs1601042810
NM_000219.6(KCNE1):c.339G>A (p.Leu113=)
NM_000219.6(KCNE1):c.384C>A (p.Ser128=)
NM_000219.6(KCNE1):c.39G>C (p.Leu13=) rs976122175
NM_000219.6(KCNE1):c.60A>G (p.Thr20=) rs2123459519
NM_000219.6(KCNE1):c.72T>C (p.Gly24=)
NM_000219.6(KCNE1):c.75C>A (p.Gly25=) rs753064398

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