ClinVar Miner

List of variants reported as likely pathogenic for Hyperlipoproteinemia, type I

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000237.3(LPL):c.347G>A (p.Arg116Gln) rs775728208 0.00002
NM_000237.3(LPL):c.547G>A (p.Asp183Asn) rs781614031 0.00002
NM_000237.3(LPL):c.805G>A (p.Glu269Lys) rs761886494 0.00002
NM_000237.3(LPL):c.1139+1G>A rs767260655 0.00001
NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) rs2070032216
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) rs886037775
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) rs762007406
NM_000237.3(LPL):c.721C>T (p.Pro241Ser) rs2128838194
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) rs1554517725
NM_000237.3(LPL):c.818A>G (p.His273Arg)
NM_000237.3(LPL):c.928T>C (p.Cys310Arg) rs886037774
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) rs2069982771

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