ClinVar Miner

List of variants in gene APOE reported by OMIM

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000041.2(APOE):c.-286T= rs405509 0.41339
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_000041.4(APOE):c.91G>A (p.Glu31Lys) rs201672011 0.00049
NM_000041.4(APOE):c.736C>T (p.Arg246Cys) rs121918395 0.00009
NM_000041.4(APOE):c.940A>C (p.Ser314Arg) rs28931579 0.00006
NM_000041.4(APOE):c.683G>A (p.Trp228Ter) rs121918396 0.00004
NM_000041.4(APOE):c.455G>A (p.Arg152Gln) rs28931578 0.00003
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000041.4(APOE):c.178A>G (p.Thr60Ala) rs28931576 0.00001
NM_000041.4(APOE):c.488G>A (p.Arg163His) rs121918397 0.00001
NM_000041.4(APOE):c.490A>C (p.Lys164Gln) rs121918394 0.00001
NM_000041.4(APOE):c.61G>A (p.Glu21Lys) rs121918392 0.00001
NM_000041.3(APOE):c.[137T>C;388T>C]
NM_000041.3(APOE):c.[305C>G;388T>C]
NM_000041.3(APOE):c.[349G>A;508G>C]
NM_000041.3(APOE):c.[388T>C;478C>T]
NM_000041.3(APOE):c.[388T>C;805C>G]
NM_000041.3(APOE):c.[434G>A;526C>T]
NM_000041.3(APOE):c.[487C>T;91G>A]
NM_000041.3(APOE):c.[526C>T;725G>A]
NM_000041.3(APOE):c.[526C>T;761T>A]
NM_000041.3(APOE):c.[784G>A;787G>A]
NM_000041.4(APOE):c.146del (p.Gly49fs) rs2122132718
NM_000041.4(APOE):c.237-2A>G rs397514253
NM_000041.4(APOE):c.415_435dup (p.Glu139_Gly145dup) rs397514254
NM_000041.4(APOE):c.460C>A (p.Arg154Ser) rs121918393
NM_000041.4(APOE):c.488G>C (p.Arg163Pro) rs121918397
NM_000041.4(APOE):c.490A>G (p.Lys164Glu) rs121918394
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000041.4(APOE):c.875G>A (p.Arg292His) rs121918398
NM_000041.4(APOE):c.[388=;526=]
NM_000041.4:c.[388=;460C>A526=]

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