ClinVar Miner

List of variants in gene PLOD1 studied for not provided

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Total variants: 45
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HGVS dbSNP
GRCh37/hg19 1p36.22(chr1:11990197-12000670)x1
NM_000302.3(PLOD1):c.-9_2delACCTCGGCCAT rs747037908
NM_000302.3(PLOD1):c.1023C>T (p.Gly341=) rs755056846
NM_000302.3(PLOD1):c.1097+1G>A rs1389548210
NM_000302.3(PLOD1):c.1097+3G>C rs1553135489
NM_000302.3(PLOD1):c.109G>A (p.Glu37Lys) rs369263247
NM_000302.3(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574
NM_000302.3(PLOD1):c.1203-3C>T rs376288573
NM_000302.3(PLOD1):c.1206C>T (p.Asn402=) rs1130529
NM_000302.3(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.3(PLOD1):c.124C>T (p.Arg42Cys) rs202003686
NM_000302.3(PLOD1):c.1334T>C (p.Val445Ala) rs922997919
NM_000302.3(PLOD1):c.137G>A (p.Arg46His) rs142710681
NM_000302.3(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511
NM_000302.3(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642
NM_000302.3(PLOD1):c.1470+2T>C rs886043927
NM_000302.3(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.3(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.3(PLOD1):c.1651-2A>G rs565513365
NM_000302.3(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295
NM_000302.3(PLOD1):c.1780G>A (p.Glu594Lys) rs777937910
NM_000302.3(PLOD1):c.1902G>A (p.Arg634=) rs1553137207
NM_000302.3(PLOD1):c.1903-2A>G rs1553137486
NM_000302.3(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517
NM_000302.3(PLOD1):c.2114C>T (p.Thr705Met) rs377406897
NM_000302.3(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.3(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.3(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.3(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.3(PLOD1):c.295G>A (p.Ala99Thr) rs7551175
NM_000302.3(PLOD1):c.307G>A (p.Asp103Asn) rs774590964
NM_000302.3(PLOD1):c.327delG (p.Arg111Glyfs) rs886042976
NM_000302.3(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_000302.3(PLOD1):c.402delA (p.Asp135Thrfs) rs886043926
NM_000302.3(PLOD1):c.404_423del20 (p.Asp135Valfs) rs745409628
NM_000302.3(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.3(PLOD1):c.583C>T (p.Gln195Ter) rs1553134578
NM_000302.3(PLOD1):c.614G>A (p.Arg205His) rs536503346
NM_000302.3(PLOD1):c.648G>T (p.Glu216Asp) rs150852515
NM_000302.3(PLOD1):c.802A>G (p.Thr268Ala) rs74354225
NM_000302.3(PLOD1):c.81_82insCTTTTAGTCCTCACGGTGGCCA (p.Lys36Phefs)
NM_000302.3(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124
NM_000302.4(PLOD1):c.882C>T (p.Ile294=) rs747668784

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