ClinVar Miner

List of variants in gene LPL reported as pathogenic for familial lipoprotein lipase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000237.3(LPL):c.835C>G (p.Leu279Val) rs371282890 0.00006
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000237.3(LPL):c.306A>C (p.Arg102Ser) rs118204073 0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg) rs118204069 0.00001
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) rs118204058 0.00001
NM_000237.3(LPL):c.607G>A (p.Ala203Thr) rs118204056 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000237.3(LPL):c.836T>G (p.Leu279Arg) rs35414700 0.00001
NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) rs1409123950 0.00001
LPL, 1-BP DEL, CODON 172
LPL, INS
NG_008855.2:g.(51625_55052)_(57638_59124)del
NM_000237.3(LPL):c.1014C>A (p.Tyr338Ter)
NM_000237.3(LPL):c.1019-2A>T rs767366957
NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) rs118204071
NM_000237.3(LPL):c.1174C>G (p.Leu392Val) rs118204078
NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) rs118204066
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) rs118204079
NM_000237.3(LPL):c.249+1G>A rs1563569634
NM_000237.3(LPL):c.250-1G>A rs1563572716
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) rs118204065
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) rs118204074
NM_000237.3(LPL):c.3G>C (p.Met1Ile)
NM_000237.3(LPL):c.506G>A (p.Gly169Glu) rs118204063
NM_000237.3(LPL):c.548A>G (p.Asp183Gly) rs118204064
NM_000237.3(LPL):c.596C>G (p.Ser199Cys) rs118204072
NM_000237.3(LPL):c.621C>G (p.Asp207Glu) rs118204076
NM_000237.3(LPL):c.665G>A (p.Gly222Glu) rs118204075
NM_000237.3(LPL):c.693C>G (p.Asp231Glu) rs118204067
NM_000237.3(LPL):c.742del (p.Ala248fs) rs1563575252
NM_000237.3(LPL):c.765_766del (p.Gly256fs) rs1563575291
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000237.3(LPL):c.798C>G (p.Cys266Trp) rs118204082
NM_000237.3(LPL):c.811T>A (p.Ser271Thr) rs118204059
NM_000237.3(LPL):c.818A>C (p.His273Pro)
NM_000237.3(LPL):c.88+1G>C rs766134215
NM_000237.3(LPL):c.898_1019-1234dup
NM_000237.3(LPL):c.925del (p.Arg309fs)
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) rs118204081

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