List of variants reported as pathogenic for Familial type 3 hyperlipoproteinemia

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.761T>A (p.Val254Glu)	rs199768005	0.00050
NM_000041.4(APOE):c.683G>A (p.Trp228Ter)	rs121918396	0.00004
NM_000041.4(APOE):c.488G>A (p.Arg163His)	rs121918397	0.00001
NM_000041.3(APOE):c.[388T>C;805C>G]
NM_000041.3(APOE):c.[487C>T;91G>A]
NM_000041.3(APOE):c.[526C>T;725G>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.490A>G (p.Lys164Glu)	rs121918394
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)	rs2077362782
NM_000527.5(LDLR):c.2312-2A>G	rs2077660035

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