ClinVar Miner

List of variants in gene LPL reported by OMIM

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.1323-187A>G rs326 0.37576
NM_000237.3(LPL):c.*1671T>C rs13702 0.35875
NM_000237.2(LPL):c.-281T>G rs1800590 0.12919
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) rs328 0.08934
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
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
LPL, 1-BP DEL, CODON 172
LPL, INS
NC_000008.11:g.19939214T>C rs2128835067
NG_008855.2:g.(51625_55052)_(57638_59124)del
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.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.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.798C>G (p.Cys266Trp) rs118204082
NM_000237.3(LPL):c.811T>A (p.Ser271Thr) rs118204059
NM_000237.3(LPL):c.88+1G>C rs766134215
NM_000237.3(LPL):c.898_1019-1234dup
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) rs118204081

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