ClinVar Miner

List of variants in gene LPL studied for familial lipoprotein lipase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.1323-187A>G rs326 0.37576
NM_000237.3(LPL):c.*827A>T rs3208305 0.36238
NM_000237.3(LPL):c.*1671T>C rs13702 0.35875
NM_000237.3(LPL):c.*1846C>T rs15285 0.35731
NM_000237.3(LPL):c.*1250A>G rs3200218 0.19694
NM_000237.3(LPL):c.*796A>G rs11570892 0.17851
NM_000237.3(LPL):c.1164C>A (p.Thr388=) rs316 0.15994
NM_000237.3(LPL):c.*1142C>T rs1059507 0.14544
NM_000237.3(LPL):c.*9G>A rs4922115 0.14446
NM_000237.3(LPL):c.1018+82C>A rs270 0.14245
NM_000237.3(LPL):c.*1742T>C rs1059611 0.12946
NC_000008.11:g.19939160T>G rs1800590 0.12919
NM_000237.3(LPL):c.*853C>T rs1803924 0.09151
NM_000237.3(LPL):c.*1224C>A rs3735964 0.09121
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) rs328 0.08934
NM_000237.3(LPL):c.435G>A (p.Glu145=) rs248 0.05843
NM_000237.3(LPL):c.405G>A (p.Val135=) rs1121923 0.04960
NM_000237.3(LPL):c.*371T>C rs3289 0.04016
NM_000237.3(LPL):c.*1416T>C rs58998793 0.02343
NM_000237.3(LPL):c.*1783A>T rs17091815 0.02107
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.1279G>A (p.Ala427Thr) rs5934 0.00972
NM_000237.3(LPL):c.-283G>T rs80351041 0.00790
NM_000237.3(LPL):c.*1167C>A rs150252331 0.00597
NM_000237.3(LPL):c.*1291G>A rs139240067 0.00549
NM_000237.3(LPL):c.*1928T>C rs79756214 0.00516
NM_000237.3(LPL):c.*29G>A rs7818177 0.00511
NM_000237.3(LPL):c.430-6C>T rs11570897 0.00432
NM_000237.3(LPL):c.*1886G>A rs147116359 0.00431
NM_000237.3(LPL):c.1018+34A>G rs190249506 0.00372
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) rs300 0.00353
NM_000237.3(LPL):c.*1387T>C rs1803923 0.00316
NM_000237.3(LPL):c.*448C>T rs191212278 0.00281
NM_000237.3(LPL):c.456T>C (p.Asn152=) rs116678290 0.00183
NM_000237.3(LPL):c.*949G>A rs11570893 0.00168
NM_000237.3(LPL):c.*1414C>T rs192714638 0.00142
NM_000237.3(LPL):c.1128C>T (p.Ile376=) rs299 0.00140
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_000237.3(LPL):c.-71C>G rs559590399 0.00092
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575 0.00088
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000237.3(LPL):c.542-8C>T rs201634558 0.00059
NM_000237.3(LPL):c.*648A>T rs137854869 0.00036
NM_000237.3(LPL):c.798C>T (p.Cys266=) rs118204082 0.00034
NM_000237.3(LPL):c.*1824T>C rs537986804 0.00029
NM_000237.3(LPL):c.*1793G>A rs767981135 0.00027
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.687T>C (p.His229=) rs45607438 0.00022
NM_000237.3(LPL):c.*729A>G rs575395509 0.00021
NM_000237.3(LPL):c.189C>T (p.Ser63=) rs114726797 0.00021
NM_000237.3(LPL):c.*1563_*1567del rs756539526 0.00020
NM_000237.3(LPL):c.*309A>T rs886062794 0.00016
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000237.3(LPL):c.*1854T>C rs993837734 0.00014
NM_000237.3(LPL):c.*846G>C rs886062798 0.00014
NM_000237.3(LPL):c.*1660G>A rs562346489 0.00013
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532 0.00013
NM_000237.3(LPL):c.*1399G>A rs866715736 0.00011
NM_000237.3(LPL):c.*1159C>T rs140767506 0.00009
NM_000237.3(LPL):c.*831G>A rs11570896 0.00009
NM_000237.3(LPL):c.*547T>C rs995558109 0.00008
NM_000237.3(LPL):c.134C>A (p.Thr45Asn) rs143944126 0.00008
NM_000237.3(LPL):c.*221C>T rs761203901 0.00007
NM_000237.3(LPL):c.1196T>C (p.Ile399Thr) rs139282874 0.00007
NM_000237.3(LPL):c.111C>T (p.Ile37=) rs374067507 0.00006
NM_000237.3(LPL):c.1123A>G (p.Asn375Asp) rs780133524 0.00006
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.*1308G>C rs373828745 0.00004
NM_000237.3(LPL):c.1338T>C (p.Ser446=) rs146509813 0.00004
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000237.3(LPL):c.373G>A (p.Ala125Thr) rs199675233 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000237.3(LPL):c.*1743G>A rs1186129642 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000237.3(LPL):c.190G>A (p.Val64Met) rs114101772 0.00003
NM_000237.3(LPL):c.439A>C (p.Asn147His) rs747222264 0.00003
NM_000237.3(LPL):c.248C>T (p.Thr83Met) rs372267210 0.00002
NM_000237.3(LPL):c.249G>A (p.Thr83=) rs544872445 0.00002
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.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000237.3(LPL):c.805G>A (p.Glu269Lys) rs761886494 0.00002
NM_000237.3(LPL):c.885A>C (p.Glu295Asp) rs1041560952 0.00002
NM_000237.2(LPL):c.-299T>G rs886062783 0.00001
NM_000237.3(LPL):c.*1048A>C rs1200033112 0.00001
NM_000237.3(LPL):c.*135C>A rs1456891629 0.00001
NM_000237.3(LPL):c.*1749T>C rs531898209 0.00001
NM_000237.3(LPL):c.*677T>C rs886062796 0.00001
NM_000237.3(LPL):c.-101C>T rs1388541862 0.00001
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) rs772132247 0.00001
NM_000237.3(LPL):c.1139+1G>A rs767260655 0.00001
NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) rs1156454170 0.00001
NM_000237.3(LPL):c.1272C>T (p.Pro424=) rs200852756 0.00001
NM_000237.3(LPL):c.1344G>A (p.Glu448=) rs143110734 0.00001
NM_000237.3(LPL):c.1373C>T (p.Ala458Val) rs140236957 0.00001
NM_000237.3(LPL):c.1401C>A (p.Asp467Glu) rs769944419 0.00001
NM_000237.3(LPL):c.306A>C (p.Arg102Ser) rs118204073 0.00001
NM_000237.3(LPL):c.313G>A (p.Asp105Asn) rs1271941649 0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg) rs118204069 0.00001
NM_000237.3(LPL):c.36C>A (p.Ala12=) rs780030692 0.00001
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) rs118204058 0.00001
NM_000237.3(LPL):c.501T>C (p.Ile167=) rs1425981651 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000237.3(LPL):c.607G>A (p.Ala203Thr) rs118204056 0.00001
NM_000237.3(LPL):c.648C>T (p.Ser216=) rs140457997 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.81C>A (p.Ala27=) rs764871141 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.900G>A (p.Gly300=) rs748234170 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.*1039G>A rs558781321
NM_000237.3(LPL):c.*1214G>T rs886062800
NM_000237.3(LPL):c.*1279G>A rs886062801
NM_000237.3(LPL):c.*1373G>A rs188947767
NM_000237.3(LPL):c.*1394A>C rs1590151766
NM_000237.3(LPL):c.*1547T>A rs2070094189
NM_000237.3(LPL):c.*1788T>C rs894550368
NM_000237.3(LPL):c.*1797G>A rs552256660
NM_000237.3(LPL):c.*1806_*1807insTT rs10645926
NM_000237.3(LPL):c.*1848C>A rs3866471
NM_000237.3(LPL):c.*1891T>C rs2070097434
NM_000237.3(LPL):c.*222A>C rs886062791
NM_000237.3(LPL):c.*262G>A rs886062792
NM_000237.3(LPL):c.*290_*293del rs886062793
NM_000237.3(LPL):c.*389C>G rs566726236
NM_000237.3(LPL):c.*414_*418del rs374509929
NM_000237.3(LPL):c.*455C>A rs538947347
NM_000237.3(LPL):c.*544A>G rs886062795
NM_000237.3(LPL):c.*688G>A rs187587525
NM_000237.3(LPL):c.*824dup rs886062797
NM_000237.3(LPL):c.*884A>C rs886062799
NM_000237.3(LPL):c.*8C>T rs765034981
NM_000237.3(LPL):c.*903C>T rs2070088031
NM_000237.3(LPL):c.-136T>C rs886062785
NM_000237.3(LPL):c.-172_-171dup rs146978295
NM_000237.3(LPL):c.-38C>G rs886062787
NM_000237.3(LPL):c.-49C>T rs886062786
NM_000237.3(LPL):c.1014C>A (p.Tyr338Ter)
NM_000237.3(LPL):c.1019-2A>T rs767366957
NM_000237.3(LPL):c.1019-3C>A rs2128839190
NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) rs118204071
NM_000237.3(LPL):c.1139+7A>G rs2128839227
NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) rs2070032216
NM_000237.3(LPL):c.1174C>G (p.Leu392Val) rs118204078
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) rs886037775
NM_000237.3(LPL):c.1216A>T (p.Lys406Ter) rs2070033114
NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) rs118204066
NM_000237.3(LPL):c.1234G>A (p.Asp412Asn) rs541991367
NM_000237.3(LPL):c.1242C>G (p.Tyr414Ter)
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000237.3(LPL):c.1302A>T (p.Lys434Asn) rs587777908
NM_000237.3(LPL):c.1306G>A (p.Gly436Arg) rs587777909
NM_000237.3(LPL):c.132G>T (p.Arg44Ser) rs2069900707
NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) rs118204079
NM_000237.3(LPL):c.1373del (p.Ala458fs)
NM_000237.3(LPL):c.1379C>T (p.Ala460Val)
NM_000237.3(LPL):c.1394G>C (p.Cys465Ser) rs2128839829
NM_000237.3(LPL):c.1414A>C (p.Lys472Gln)
NM_000237.3(LPL):c.1416_1417insT (p.Lys473Ter) rs886062790
NM_000237.3(LPL):c.1427+15C>A rs758248912
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) rs762007406
NM_000237.3(LPL):c.249+1G>A rs1563569634
NM_000237.3(LPL):c.250-1G>A rs1563572716
NM_000237.3(LPL):c.260T>C (p.Met87Thr) rs886062788
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) rs118204065
NM_000237.3(LPL):c.276G>A (p.Val92=) rs551959021
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) rs118204074
NM_000237.3(LPL):c.333G>T (p.Val111=) rs749390229
NM_000237.3(LPL):c.347G>C (p.Arg116Pro)
NM_000237.3(LPL):c.386A>C (p.Lys129Thr)
NM_000237.3(LPL):c.3G>C (p.Met1Ile)
NM_000237.3(LPL):c.478C>T (p.Leu160Phe) rs886062789
NM_000237.3(LPL):c.487C>T (p.His163Tyr) rs2069951773
NM_000237.3(LPL):c.506G>A (p.Gly169Glu) rs118204063
NM_000237.3(LPL):c.542-1G>A
NM_000237.3(LPL):c.548A>G (p.Asp183Gly) rs118204064
NM_000237.3(LPL):c.550C>T (p.Pro184Ser)
NM_000237.3(LPL):c.573T>G (p.Tyr191Ter)
NM_000237.3(LPL):c.596C>G (p.Ser199Cys) rs118204072
NM_000237.3(LPL):c.59C>T (p.Ala20Val) rs572477224
NM_000237.3(LPL):c.621C>G (p.Asp207Glu) rs118204076
NM_000237.3(LPL):c.628C>T (p.His210Tyr)
NM_000237.3(LPL):c.632C>A (p.Thr211Lys)
NM_000237.3(LPL):c.663_670dup (p.Gln224fs)
NM_000237.3(LPL):c.665G>A (p.Gly222Glu) rs118204075
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000237.3(LPL):c.679G>C (p.Val227Leu)
NM_000237.3(LPL):c.688del (p.Val230fs) rs2128838185
NM_000237.3(LPL):c.693C>G (p.Asp231Glu) rs118204067
NM_000237.3(LPL):c.721C>T (p.Pro241Ser) rs2128838194
NM_000237.3(LPL):c.72G>C (p.Gly24=) rs1175832133
NM_000237.3(LPL):c.742del (p.Ala248fs) rs1563575252
NM_000237.3(LPL):c.744T>C (p.Ala248=) rs757675785
NM_000237.3(LPL):c.764G>C (p.Arg255Thr)
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.797G>A (p.Cys266Tyr) rs1554517725
NM_000237.3(LPL):c.798C>G (p.Cys266Trp) rs118204082
NM_000237.3(LPL):c.802C>T (p.His268Tyr)
NM_000237.3(LPL):c.804C>A (p.His268Gln)
NM_000237.3(LPL):c.811T>A (p.Ser271Thr) rs118204059
NM_000237.3(LPL):c.818A>C (p.His273Pro)
NM_000237.3(LPL):c.818A>G (p.His273Arg)
NM_000237.3(LPL):c.84C>G (p.Ala28=) rs1387718651
NM_000237.3(LPL):c.88+1G>C rs766134215
NM_000237.3(LPL):c.88+3A>C
NM_000237.3(LPL):c.898_1019-1234dup
NM_000237.3(LPL):c.925del (p.Arg309fs)
NM_000237.3(LPL):c.928T>C (p.Cys310Arg) rs886037774
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) rs118204081
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) rs2069982771

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