ClinVar Miner

List of variants in gene LPL reported as pathogenic for not provided

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
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.286G>C (p.Val96Leu) rs373088068 0.00013
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
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.547G>A (p.Asp183Asn) rs781614031 0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000237.3(LPL):c.805G>A (p.Glu269Lys) rs761886494 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.590G>A (p.Arg197His) rs372668179 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
NC_000008.10:g.(?_19796711)_(19797049_?)del
NC_000008.10:g.(?_19796952)_(19805871_?)del
NC_000008.10:g.(?_19796952)_(19822821_?)del
NC_000008.10:g.(?_19805671)_(19805871_?)del
NC_000008.10:g.(?_19810811)_(19811874_?)del
NC_000008.10:g.(?_19818402)_(19824563_?)del
NM_000237.3(LPL):c.1003C>T (p.Gln335Ter) rs2128838569
NM_000237.3(LPL):c.1014C>A (p.Tyr338Ter)
NM_000237.3(LPL):c.1014C>G (p.Tyr338Ter)
NM_000237.3(LPL):c.1019-3C>A rs2128839190
NM_000237.3(LPL):c.1048dup (p.Ser350fs)
NM_000237.3(LPL):c.10_19del (p.Lys4fs) rs2128835130
NM_000237.3(LPL):c.1158dup (p.Lys387Ter)
NM_000237.3(LPL):c.1172_1175del (p.Ser390_Phe391insTer) rs2128839576
NM_000237.3(LPL):c.1187_1188del (p.Glu396fs)
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000237.3(LPL):c.1259G>A (p.Trp420Ter) rs747786336
NM_000237.3(LPL):c.1263G>A (p.Trp421Ter) rs2070033559
NM_000237.3(LPL):c.127dup (p.Leu43fs)
NM_000237.3(LPL):c.1302del (p.Ala435fs)
NM_000237.3(LPL):c.1322+1G>C rs2128839625
NM_000237.3(LPL):c.138del (p.Glu47fs) rs2128837004
NM_000237.3(LPL):c.147del (p.Ala50fs)
NM_000237.3(LPL):c.199dup (p.Cys67fs)
NM_000237.3(LPL):c.214_224del (p.Ser72fs)
NM_000237.3(LPL):c.249+1G>A rs1563569634
NM_000237.3(LPL):c.289_294delinsTTTGCCAAAA (p.Ala97fs) rs2069936535
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) rs118204074
NM_000237.3(LPL):c.339G>A (p.Trp113Ter)
NM_000237.3(LPL):c.355del (p.Glu119fs) rs2128837699
NM_000237.3(LPL):c.41G>A (p.Trp14Ter) rs1590134297
NM_000237.3(LPL):c.440_443del (p.Asn147fs)
NM_000237.3(LPL):c.46_47del (p.Gln16fs) rs1376148269
NM_000237.3(LPL):c.474C>G (p.Tyr158Ter) rs767027334
NM_000237.3(LPL):c.538del (p.Thr180fs)
NM_000237.3(LPL):c.541G>A (p.Gly181Ser) rs747009924
NM_000237.3(LPL):c.541G>C (p.Gly181Arg) rs747009924
NM_000237.3(LPL):c.566_567del (p.Asn188_Phe189insTer) rs1416098529
NM_000237.3(LPL):c.572_588del (p.Tyr191fs) rs2128838150
NM_000237.3(LPL):c.573T>G (p.Tyr191Ter)
NM_000237.3(LPL):c.590G>T (p.Arg197Leu) rs372668179
NM_000237.3(LPL):c.640A>T (p.Arg214Ter) rs2069962309
NM_000237.3(LPL):c.655C>T (p.Arg219Ter)
NM_000237.3(LPL):c.688del (p.Val230fs) rs2128838185
NM_000237.3(LPL):c.721C>T (p.Pro241Ser) rs2128838194
NM_000237.3(LPL):c.763_766del (p.Arg255fs) rs1563575291
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.811del (p.Ser271fs) rs2128838491
NM_000237.3(LPL):c.821del (p.Leu274fs)
NM_000237.3(LPL):c.858T>G (p.Ser286Arg)
NM_000237.3(LPL):c.88+2dup
NM_000237.3(LPL):c.919A>T (p.Lys307Ter) rs2069981391
NM_000237.3(LPL):c.932del (p.Asn311fs) rs2128838546
NM_000237.3(LPL):c.942del (p.Tyr315fs)
NM_000237.3(LPL):c.94_98del (p.Arg32fs) rs1263698980
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) rs2069982771

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