ClinVar Miner

List of variants in gene KCNE5 studied for cardiovascular disorder

Included ClinVar conditions (1435):
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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser) rs17003955 0.10059
NM_012282.4(KCNE5):c.210C>T (p.Tyr70=) rs142564059 0.00089
NM_012282.4(KCNE5):c.346G>A (p.Ala116Thr) rs764993726 0.00047
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter) rs374389286 0.00028
NM_012282.4(KCNE5):c.241T>C (p.Tyr81His) rs199924386 0.00022
NM_012282.4(KCNE5):c.325C>T (p.Leu109=) rs767463268 0.00010
NM_012282.4(KCNE5):c.262G>A (p.Val88Ile) rs145491359 0.00009
NM_012282.4(KCNE5):c.298G>C (p.Glu100Gln) rs775987548 0.00008
NM_012282.4(KCNE5):c.333C>T (p.Ala111=) rs752061790 0.00008
NM_012282.4(KCNE5):c.334G>A (p.Asp112Asn) rs764564753 0.00008
NM_012282.4(KCNE5):c.277G>T (p.Glu93Ter) rs61729624 0.00006
NM_012282.4(KCNE5):c.42C>T (p.Ser14=) rs763118222 0.00006
NM_012282.4(KCNE5):c.123C>T (p.Val41=) rs919650074 0.00004
NM_012282.4(KCNE5):c.263T>A (p.Val88Asp) rs1420621771 0.00003
NM_012282.4(KCNE5):c.305A>C (p.Glu102Ala) rs375008004 0.00002
NM_012282.4(KCNE5):c.387C>G (p.Ser129=) rs982739595 0.00002
NM_012282.4(KCNE5):c.49T>C (p.Leu17=) rs759549899 0.00002
NM_012282.4(KCNE5):c.168C>T (p.Gly56=) rs1934266907 0.00001
NM_012282.4(KCNE5):c.281C>G (p.Pro94Arg) rs762719236 0.00001
NM_012282.4(KCNE5):c.285C>T (p.Ser95=) rs750371428 0.00001
NM_012282.4(KCNE5):c.286C>G (p.Gln96Glu) rs769195237 0.00001
NM_012282.4(KCNE5):c.304G>A (p.Glu102Lys) rs1397229944 0.00001
NC_000023.10:g.(?_108867821)_(108868249_?)del
NM_012282.3(KCNE5):c.-144-?_*892dup1465
NM_012282.4(KCNE5):c.100C>T (p.Arg34Cys)
NM_012282.4(KCNE5):c.124G>A (p.Val42Met)
NM_012282.4(KCNE5):c.130G>C (p.Asp44His) rs1934267803
NM_012282.4(KCNE5):c.135T>C (p.Pro45=)
NM_012282.4(KCNE5):c.139G>C (p.Val47Leu)
NM_012282.4(KCNE5):c.13del (p.Glu5fs)
NM_012282.4(KCNE5):c.147C>T (p.Arg49=) rs2147333975
NM_012282.4(KCNE5):c.179A>G (p.Tyr60Cys) rs1934266717
NM_012282.4(KCNE5):c.186C>T (p.Tyr62=)
NM_012282.4(KCNE5):c.193C>T (p.Leu65Phe)
NM_012282.4(KCNE5):c.203T>C (p.Ile68Thr)
NM_012282.4(KCNE5):c.203TCT[1] (p.Phe69del) rs1184414342
NM_012282.4(KCNE5):c.227G>A (p.Gly76Asp)
NM_012282.4(KCNE5):c.24G>T (p.Arg8=) rs2147334108
NM_012282.4(KCNE5):c.254G>A (p.Arg85His) rs750897913
NM_012282.4(KCNE5):c.264C>T (p.Val88=)
NM_012282.4(KCNE5):c.265G>A (p.Glu89Lys)
NM_012282.4(KCNE5):c.276_277delinsAT (p.Asp92_Glu93delinsGluTer) rs2147333878
NM_012282.4(KCNE5):c.280C>T (p.Pro94Ser) rs374913815
NM_012282.4(KCNE5):c.283T>C (p.Ser95Pro)
NM_012282.4(KCNE5):c.297_301del (p.Glu100fs) rs757341707
NM_012282.4(KCNE5):c.29G>T (p.Arg10Leu)
NM_012282.4(KCNE5):c.315G>A (p.Pro105=) rs2147333826
NM_012282.4(KCNE5):c.322G>A (p.Ala108Thr)
NM_012282.4(KCNE5):c.327G>C (p.Leu109=)
NM_012282.4(KCNE5):c.329C>A (p.Thr110Asn) rs2147333805
NM_012282.4(KCNE5):c.336C>A (p.Asp112Glu) rs72548778
NM_012282.4(KCNE5):c.337_338delinsAA (p.Ala113Asn) rs2147333788
NM_012282.4(KCNE5):c.339C>T (p.Ala113=)
NM_012282.4(KCNE5):c.33C>T (p.Thr11=) rs1603395902
NM_012282.4(KCNE5):c.349G>A (p.Ala117Thr) rs951525284
NM_012282.4(KCNE5):c.351G>A (p.Ala117=)
NM_012282.4(KCNE5):c.358C>T (p.Gln120Ter)
NM_012282.4(KCNE5):c.371G>T (p.Arg124Leu) rs2147333758
NM_012282.4(KCNE5):c.374G>A (p.Arg125His)
NM_012282.4(KCNE5):c.396G>C (p.Leu132=) rs1196378792
NM_012282.4(KCNE5):c.397C>T (p.Pro133Ser) rs776874809
NM_012282.4(KCNE5):c.54C>T (p.Leu18=)
NM_012282.4(KCNE5):c.55G>C (p.Glu19Gln) rs374389286
NM_012282.4(KCNE5):c.64C>T (p.His22Tyr)
NM_012282.4(KCNE5):c.71G>A (p.Gly24Asp) rs778650204
NM_012282.4(KCNE5):c.79A>G (p.Ser27Gly)
NM_012282.4(KCNE5):c.81C>T (p.Ser27=)

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