ClinVar Miner

List of variants in gene PLOD1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.1585-218A>G rs6678553 0.57828
NM_000302.4(PLOD1):c.1471-184T>C rs2273291 0.57813
NM_000302.4(PLOD1):c.2028+66G>C rs3820190 0.57483
NM_000302.4(PLOD1):c.2028+59A>G rs3737961 0.56647
NM_000302.4(PLOD1):c.466+201A>G rs60895266 0.55430
NM_000302.4(PLOD1):c.1756-280G>A rs11121846 0.50438
NM_000302.4(PLOD1):c.1755+160G>A rs3818157 0.50215
NM_000302.4(PLOD1):c.1755+56C>T rs2273293 0.50012
NM_000302.4(PLOD1):c.76+264A>G rs1208984 0.42207
NM_000302.4(PLOD1):c.1902+122A>G rs59235751 0.39747
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_000302.4(PLOD1):c.976-291A>G rs2207751 0.27469
NM_000302.4(PLOD1):c.643+204G>A rs2273288 0.27340
NM_000302.4(PLOD1):c.579+188G>A rs58495963 0.27268
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000302.4(PLOD1):c.844-283T>C rs2273289 0.25110
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_000302.4(PLOD1):c.1097+220T>C rs59578134 0.16906
NM_000302.4(PLOD1):c.1470+81T>C rs7529312 0.16230
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_000302.4(PLOD1):c.1329-94T>A rs7529028 0.12643
NM_000302.4(PLOD1):c.169-96C>T rs58469200 0.11516
NM_000302.4(PLOD1):c.302+83G>A rs41278622 0.06846
NM_000302.4(PLOD1):c.579+274G>A rs72641005 0.06623
NM_000302.4(PLOD1):c.467-271A>G rs2273286 0.06159
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NC_000001.11:g.11934559G>C rs72857800 0.05550
NM_000302.4(PLOD1):c.1203-174T>C rs111594810 0.04980
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_000302.4(PLOD1):c.644-17T>G rs41307745 0.04239
NM_000302.4(PLOD1):c.2028+318C>T rs141226729 0.03149
NM_000302.4(PLOD1):c.1755+182G>A rs114546387 0.02985
NM_000302.4(PLOD1):c.168+79C>T rs744754 0.02651
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000302.4(PLOD1):c.1470+261A>C rs114468951 0.02563
NM_000302.4(PLOD1):c.1329-20G>A rs78527487 0.02519
NM_000302.4(PLOD1):c.169-53C>G rs114595968 0.02409
NM_000302.4(PLOD1):c.*71C>G rs2230899 0.02327
NM_000302.4(PLOD1):c.1098-89G>A rs72641011 0.02302
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000302.4(PLOD1):c.1903-275C>G rs114349302 0.02111
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_000302.4(PLOD1):c.976-142G>T rs111974979 0.01967
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_000302.4(PLOD1):c.975+183A>T rs114126326 0.01886
NC_000001.11:g.11934630T>C rs76923399 0.01818
NM_000302.4(PLOD1):c.1203-155C>A rs7514470 0.01738
NC_000001.11:g.11934495G>A rs79541392 0.01648
NM_000302.4(PLOD1):c.1097+326A>T rs148374791 0.01433
NM_000302.4(PLOD1):c.1650+79G>A rs115520586 0.01300
NM_000302.4(PLOD1):c.1097+219T>C rs112904654 0.00935
NM_000302.4(PLOD1):c.1098-230G>A rs147645440 0.00885
NM_000302.4(PLOD1):c.741+262A>G rs143846790 0.00864
NM_000302.4(PLOD1):c.2029-179C>T rs56868043 0.00760
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_000302.4(PLOD1):c.741+77G>A rs138253757 0.00753
NM_000302.4(PLOD1):c.76+93T>C rs111824694 0.00737
NM_000302.4(PLOD1):c.644-108A>T rs115737940 0.00723
NM_000302.4(PLOD1):c.1585-269C>T rs116001392 0.00683
NM_000302.4(PLOD1):c.1755+57G>A rs114809135 0.00680
NM_000302.4(PLOD1):c.77-216C>T rs79892860 0.00677
NM_000302.4(PLOD1):c.1755+106G>A rs116594838 0.00670
NM_000302.4(PLOD1):c.1903-335G>A rs116593479 0.00670
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000302.4(PLOD1):c.1756-75G>A rs6685691 0.00656
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_000302.4(PLOD1):c.843+220G>A rs116133545 0.00620
NM_000302.4(PLOD1):c.466+73G>A rs116340942 0.00601
NM_000302.4(PLOD1):c.1328+27T>G rs1338646628 0.00516
NM_000302.4(PLOD1):c.467-36G>A rs192592403 0.00508
NM_000302.4(PLOD1):c.1650+31C>A rs181227488 0.00503
NM_000302.4(PLOD1):c.76+17C>T rs113691754 0.00498
NM_000302.4(PLOD1):c.1203-237A>T rs115762130 0.00490
NM_000302.4(PLOD1):c.168+286C>T rs138210445 0.00479
NM_000302.4(PLOD1):c.1755+311G>T rs115100659 0.00477
NM_000302.4(PLOD1):c.303-115G>A rs77325770 0.00476
NM_000302.4(PLOD1):c.976-255C>T rs142176436 0.00409
NM_000302.4(PLOD1):c.1470+196G>A rs150192846 0.00371
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000302.4(PLOD1):c.644-194A>C rs147062976 0.00350
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000302.4(PLOD1):c.1755+40G>A rs75453415 0.00317
NM_000302.4(PLOD1):c.467-245C>T rs114927523 0.00279
NM_000302.4(PLOD1):c.1902+13G>A rs199765551 0.00259
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176 0.00170
NM_000302.4(PLOD1):c.1098-52C>A rs188970593 0.00169
NM_000302.4(PLOD1):c.1203-32C>T rs200325480 0.00160
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_000302.4(PLOD1):c.843+17G>C rs201244598 0.00086
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_000302.4(PLOD1):c.776G>A (p.Arg259His) rs144226170 0.00076
NM_000302.4(PLOD1):c.976-16C>T rs142329815 0.00073
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796 0.00058
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=) rs139165192 0.00052
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=) rs139468110 0.00034
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011 0.00032
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387 0.00030
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp) rs150852515 0.00016
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.644-11C>T rs375303994 0.00013
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000302.4(PLOD1):c.643+15C>T rs376661744 0.00008
NM_000302.4(PLOD1):c.1218G>A (p.Pro406=) rs754812888 0.00007
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535 0.00007
NM_000302.4(PLOD1):c.276G>A (p.Glu92=) rs768169776 0.00006
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000302.4(PLOD1):c.1202+3G>A rs370358836 0.00005
NM_000302.4(PLOD1):c.870C>T (p.Val290=) rs373082170 0.00005
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511 0.00004
NM_000302.4(PLOD1):c.1471-18C>T rs368968576 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381 0.00004
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343 0.00004
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000302.4(PLOD1):c.-28del rs1204442973 0.00003
NM_000302.4(PLOD1):c.1098-3C>T rs541901674 0.00003
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys) rs370790682 0.00003
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys) rs138698098 0.00003
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000302.4(PLOD1):c.*6C>T rs1254813319 0.00002
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met) rs371223839 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000302.4(PLOD1):c.1555G>A (p.Asp519Asn) rs750991056 0.00002
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu) rs1485759254 0.00002
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser) rs764750668 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897 0.00002
NM_000302.4(PLOD1):c.882C>T (p.Ile294=) rs747668784 0.00002
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr) rs367592901 0.00001
NM_000302.4(PLOD1):c.1149T>C (p.Ala383=) rs1051856481 0.00001
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys) rs373520363 0.00001
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro) rs1434675020 0.00001
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu) rs753623016 0.00001
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720 0.00001
NM_000302.4(PLOD1):c.135G>A (p.Lys45=) rs765354146 0.00001
NM_000302.4(PLOD1):c.1461C>T (p.Ile487=) rs746099980 0.00001
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile) rs780133138 0.00001
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe) rs1374717198 0.00001
NM_000302.4(PLOD1):c.1619C>T (p.Thr540Ile) rs1265414816 0.00001
NM_000302.4(PLOD1):c.1780G>A (p.Glu594Lys) rs777937910 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met) rs780253192 0.00001
NM_000302.4(PLOD1):c.309C>T (p.Asp103=) rs750096749 0.00001
NM_000302.4(PLOD1):c.466+3G>A rs779840832 0.00001
NM_000302.4(PLOD1):c.741+7G>A rs751215041 0.00001
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp) rs558752942 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282 0.00001
NM_000302.4(PLOD1):c.-27C>A rs1252431057
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1077A>G (p.Ala359=) rs1569713675
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000302.4(PLOD1):c.1097+333_1097+334del rs546442143
NM_000302.4(PLOD1):c.1097+3G>C rs1553135489
NM_000302.4(PLOD1):c.1097+4A>G rs2100754342
NM_000302.4(PLOD1):c.1098-4G>A rs1553135998
NM_000302.4(PLOD1):c.1128C>T (p.Thr376=) rs1553136011
NM_000302.4(PLOD1):c.1202+143_1202+154dup rs369976401
NM_000302.4(PLOD1):c.1203-194G>T rs116185627
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.1328+23T>G rs755368852
NM_000302.4(PLOD1):c.1334T>C (p.Val445Ala) rs922997919
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser) rs1490187110
NM_000302.4(PLOD1):c.1471-315del rs570781705
NM_000302.4(PLOD1):c.1471-315dup rs570781705
NM_000302.4(PLOD1):c.1471-80C>G rs180795740
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT rs1553136318
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile) rs750942824
NM_000302.4(PLOD1):c.1584+138G>C rs78416567
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1650+226del rs200184176
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1903-128T>G rs116375338
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.1903-18C>T rs750758605
NM_000302.4(PLOD1):c.1952C>T (p.Pro651Leu) rs1645876638
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr)
NM_000302.4(PLOD1):c.2001C>T (p.Ala667=) rs777554498
NM_000302.4(PLOD1):c.2028+11G>C rs1057523876
NM_000302.4(PLOD1):c.2107C>T (p.Arg703Ter)
NM_000302.4(PLOD1):c.230A>C (p.Lys77Thr) rs2100743417
NM_000302.4(PLOD1):c.315_317del (p.Phe106del) rs770511543
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu) rs549517196
NM_000302.4(PLOD1):c.331C>A (p.Arg111=) rs772221158
NM_000302.4(PLOD1):c.34T>C (p.Trp12Arg)
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys) rs1645691095
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.467-35G>A rs183509111
NM_000302.4(PLOD1):c.467-35G>C rs183509111
NM_000302.4(PLOD1):c.535G>C (p.Asp179His) rs188165334
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.579+241C>G rs72641004
NM_000302.4(PLOD1):c.583C>T (p.Gln195Ter) rs1553134578
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.644-202T>C rs6665648
NM_000302.4(PLOD1):c.741+4G>A rs763641520
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala) rs774044489
NM_000302.4(PLOD1):c.844-195C>G rs2273290
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.916_928dup (p.Arg310fs) rs1471557079
NM_000302.4(PLOD1):c.975+1G>C rs1411944871
NM_000302.4(PLOD1):c.976-262G>A rs57286355

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