ClinVar Miner

List of variants in gene KCNE1 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 31
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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.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser) rs778439872 0.00018
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) rs150458884 0.00015
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.162C>T (p.Phe54=) rs17173508 0.00012
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.-5C>A rs191334763 0.00005
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000219.6(KCNE1):c.222G>A (p.Ser74=) rs766767618 0.00004
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000219.6(KCNE1):c.297C>G (p.Val99=) rs780553669 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.375G>A (p.Thr125=) rs767686634 0.00002
NM_000219.6(KCNE1):c.9G>A (p.Leu3=) rs868666103 0.00002
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299 0.00001
NM_000219.6(KCNE1):c.120C>T (p.Gly40=) rs756778741
NM_000219.6(KCNE1):c.153G>T (p.Leu51=)
NM_000219.6(KCNE1):c.255T>C (p.Asp85=)
NM_000219.6(KCNE1):c.265G>A (p.Glu89Lys)
NM_000219.6(KCNE1):c.315G>C (p.Ser105=)
NM_000219.6(KCNE1):c.343A>G (p.Ile115Val)
NM_000219.6(KCNE1):c.37C>T (p.Leu13=) rs919327457
NM_000219.6(KCNE1):c.48G>A (p.Leu16=)

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