ClinVar Miner

List of variants in gene combination KCNE2, LOC105372791 reported as uncertain significance for long QT syndrome 6

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_172201.2(KCNE2):c.-13+5G>A rs786205806 0.00043
NM_172201.2(KCNE2):c.*62G>A rs72550218 0.00034
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_172201.2(KCNE2):c.153G>T (p.Leu51=) rs143767851 0.00019
NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr) rs150790888 0.00009
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_172201.2(KCNE2):c.*234G>A rs981526333 0.00004
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) rs751931568 0.00004
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp) rs141423405 0.00004
NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter) rs779306606 0.00004
NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) rs747045005 0.00004
NM_172201.2(KCNE2):c.-121C>T rs188625398 0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_172201.2(KCNE2):c.-80C>T rs566735365 0.00002
NM_172201.2(KCNE2):c.204G>A (p.Leu68=) rs200403369 0.00002
NM_172201.2(KCNE2):c.238T>C (p.Ser80Pro) rs893883306 0.00002
NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly) rs74424227 0.00002
NM_172201.2(KCNE2):c.144dup (p.Val49fs) rs751276927 0.00001
NM_172201.2(KCNE2):c.160A>G (p.Met54Val) rs371724328 0.00001
NM_172201.2(KCNE2):c.171T>G (p.Ile57Met) rs146053586 0.00001
NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile) rs16991654 0.00001
NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) rs776661633 0.00001
NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) rs1434304789 0.00001
NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn) rs1333677285 0.00001
NM_172201.2(KCNE2):c.2T>C (p.Met1Thr) rs867658122 0.00001
NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu) rs139202426 0.00001
NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser) rs746625998 0.00001
NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp) rs1305783893 0.00001
NM_172201.2(KCNE2):c.47G>A (p.Arg16Gln) rs368865412 0.00001
NM_172201.2(KCNE2):c.*11A>C rs558860396
NM_172201.2(KCNE2):c.*240G>C rs773295544
NM_172201.2(KCNE2):c.*61C>T rs551483595
NM_172201.2(KCNE2):c.101A>G (p.Gln34Arg)
NM_172201.2(KCNE2):c.116C>G (p.Ala39Gly)
NM_172201.2(KCNE2):c.117del (p.Val41fs)
NM_172201.2(KCNE2):c.119A>C (p.Lys40Thr)
NM_172201.2(KCNE2):c.122T>C (p.Val41Ala) rs1273269997
NM_172201.2(KCNE2):c.130G>A (p.Glu44Lys)
NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro) rs2123423458
NM_172201.2(KCNE2):c.163_165dup (p.Val55_Met56insVal)
NM_172201.2(KCNE2):c.175A>G (p.Met59Val)
NM_172201.2(KCNE2):c.190A>G (p.Ile64Val) rs1555837082
NM_172201.2(KCNE2):c.193G>A (p.Val65Met) rs199473364
NM_172201.2(KCNE2):c.193G>C (p.Val65Leu) rs199473364
NM_172201.2(KCNE2):c.197C>T (p.Ala66Val) rs16991656
NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr) rs1979545359
NM_172201.2(KCNE2):c.236A>G (p.His79Arg)
NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys)
NM_172201.2(KCNE2):c.247C>A (p.Pro83Thr)
NM_172201.2(KCNE2):c.247C>G (p.Pro83Ala) rs1979548748
NM_172201.2(KCNE2):c.250T>C (p.Tyr84His) rs1011448773
NM_172201.2(KCNE2):c.26A>T (p.Gln9Leu)
NM_172201.2(KCNE2):c.294C>G (p.Ser98Arg) rs1196937368
NM_172201.2(KCNE2):c.298A>C (p.Ile100Leu)
NM_172201.2(KCNE2):c.31C>G (p.Leu11Val)
NM_172201.2(KCNE2):c.331C>T (p.His111Tyr)
NM_172201.2(KCNE2):c.344G>T (p.Gly115Val) rs1349032678
NM_172201.2(KCNE2):c.345_346dup (p.Ala116fs) rs2123424300
NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe) rs1979560748
NM_172201.2(KCNE2):c.369dup (p.Ter124LeuextTer?)
NM_172201.2(KCNE2):c.58A>G (p.Ile20Val)
NM_172201.2(KCNE2):c.73A>T (p.Asn25Tyr)
NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser) rs74315449
NM_172201.2(KCNE2):c.86A>T (p.Asn29Ile)
NM_172201.2(KCNE2):c.89C>T (p.Thr30Ile) rs772975913

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