ClinVar Miner

List of variants in gene PLOD1 studied for not provided

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Total variants: 91
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HGVS dbSNP
GRCh37/hg19 1p36.22(chr1:11990197-12000670)x1
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=) rs755056846
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+220T>C rs59578134
NM_000302.4(PLOD1):c.1097+3G>C rs1553135489
NM_000302.4(PLOD1):c.1098-89G>A rs72641011
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516
NM_000302.4(PLOD1):c.114C>T (p.Thr38=) rs11553679
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=) rs771685198
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574
NM_000302.4(PLOD1):c.1191C>A (p.Ile397=) rs899107980
NM_000302.4(PLOD1):c.1203-10C>G rs1569721056
NM_000302.4(PLOD1):c.1203-3C>T rs376288573
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432
NM_000302.4(PLOD1):c.1299C>T (p.Asp433=) rs886039111
NM_000302.4(PLOD1):c.1328+27T>G rs1338646628
NM_000302.4(PLOD1):c.1329-94T>A rs7529028
NM_000302.4(PLOD1):c.1334T>C (p.Val445Ala) rs922997919
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.1470+81T>C rs7529312
NM_000302.4(PLOD1):c.1471-6C>T rs751904520
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=) rs139165192
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.4(PLOD1):c.1554C>T (p.Asn518=) rs759491848
NM_000302.4(PLOD1):c.159C>T (p.Tyr53=) rs1569682156
NM_000302.4(PLOD1):c.1638G>A (p.Lys546=) rs1569726862
NM_000302.4(PLOD1):c.1651-2A>G rs565513365
NM_000302.4(PLOD1):c.1651-8C>T rs191817164
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295
NM_000302.4(PLOD1):c.169-53C>G rs114595968
NM_000302.4(PLOD1):c.169-96C>T rs58469200
NM_000302.4(PLOD1):c.1756-280G>A rs11121846
NM_000302.4(PLOD1):c.1780G>A (p.Glu594Lys) rs777937910
NM_000302.4(PLOD1):c.1794T>G (p.Thr598=) rs773916889
NM_000302.4(PLOD1):c.1863G>A (p.Ala621=) rs912522044
NM_000302.4(PLOD1):c.1902+9G>T rs200395169
NM_000302.4(PLOD1):c.1902G>A (p.Arg634=) rs1553137207
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517
NM_000302.4(PLOD1):c.2001C>T (p.Ala667=) rs777554498
NM_000302.4(PLOD1):c.2013C>T (p.Val671=) rs541261242
NM_000302.4(PLOD1):c.2028+8G>T rs181951731
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897
NM_000302.4(PLOD1):c.246G>A (p.Lys82=) rs1258534388
NM_000302.4(PLOD1):c.253C>T (p.Leu85=) rs1467075585
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.4(PLOD1):c.302+83G>A rs41278622
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.331C>A (p.Arg111=) rs772221158
NM_000302.4(PLOD1):c.402del (p.Asp135fs) rs886043926
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.467-271A>G rs2273286
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg)
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+274G>A rs72641005
NM_000302.4(PLOD1):c.583C>T (p.Gln195Ter) rs1553134578
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346
NM_000302.4(PLOD1):c.644-11C>T rs375303994
NM_000302.4(PLOD1):c.648G>A (p.Glu216=) rs150852515
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp) rs150852515
NM_000302.4(PLOD1):c.720C>T (p.Ile240=) rs770749842
NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg) rs762431149
NM_000302.4(PLOD1):c.742-9C>G rs771746998
NM_000302.4(PLOD1):c.759G>C (p.Leu253=) rs762271097
NM_000302.4(PLOD1):c.76+264A>G rs1208984
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124
NM_000302.4(PLOD1):c.777C>T (p.Arg259=) rs1473839953
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550
NM_000302.4(PLOD1):c.843+10C>T rs149399201
NM_000302.4(PLOD1):c.844-283T>C rs2273289
NM_000302.4(PLOD1):c.84_105dup (p.Lys36delinsPheSerProHisGlyGlyHisTer) rs1557485448
NM_000302.4(PLOD1):c.882C>T (p.Ile294=) rs747668784
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr) rs565765056
NM_000302.4(PLOD1):c.916_928dup (p.Arg310fs) rs1471557079
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000302.4(PLOD1):c.976-262G>A rs57286355
NM_000302.4(PLOD1):c.976-291A>G rs2207751

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