ClinVar Miner

List of variants in gene PLOD1 studied for Ehlers-Danlos syndrome, hydroxylysine-deficient

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Gene type:
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Total variants: 211
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HGVS dbSNP
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_12009820)_(12012802_?)del
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.10:g.(?_12020703)_(12020824_?)del
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NM_000302.3(PLOD1):c.-64C>G rs886045195
NM_000302.3(PLOD1):c.-77G>A rs144465849
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*148C>G rs886045211
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*440G>C rs11553681
NM_000302.4(PLOD1):c.*528G>A rs886045215
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.*71C>G rs2230899
NM_000302.4(PLOD1):c.*721T>G rs142707437
NM_000302.4(PLOD1):c.-39G>T rs769995450
NM_000302.4(PLOD1):c.-58G>A rs552712043
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=) rs755056846
NM_000302.4(PLOD1):c.1026C>T (p.Ser342=) rs140159343
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=) rs1159010003
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp)
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys)
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.114C>T (p.Thr38=) rs11553679
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys)
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp)
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284
NM_000302.4(PLOD1):c.1202+3G>A rs370358836
NM_000302.4(PLOD1):c.1203-3C>T rs376288573
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser)
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro)
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys)
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720
NM_000302.4(PLOD1):c.1329-1G>T
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys)
NM_000302.4(PLOD1):c.135G>A (p.Lys45=) rs765354146
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.1388G>A (p.Arg463Gln) rs750100311
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965
NM_000302.4(PLOD1):c.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT rs1553136318
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=) rs139165192
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile)
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=) rs1025133534
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.1543C>T (p.His515Tyr) rs746905101
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1608C>T (p.His536=) rs138289419
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met)
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965
NM_000302.4(PLOD1):c.1651-10C>T rs755961387
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val)
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=) rs139230801
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=) rs139468110
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=) rs372579008
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp)
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser)
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met)
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys)
NM_000302.4(PLOD1):c.1902+9G>T rs200395169
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp)
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter)
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val)
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile)
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val)
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175
NM_000302.4(PLOD1):c.302+15G>A rs140227667
NM_000302.4(PLOD1):c.302+5G>A
NM_000302.4(PLOD1):c.303-10C>T rs750987724
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964
NM_000302.4(PLOD1):c.30G>C (p.Leu10=) rs886039113
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
NM_000302.4(PLOD1):c.315_317del (p.Phe106del)
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)
NM_000302.4(PLOD1):c.407G>A (p.Arg136His)
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys)
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly)
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr) rs188165334
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu)
NM_000302.4(PLOD1):c.570G>A (p.Pro190=) rs776173072
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+10A>G rs538255620
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.4(PLOD1):c.608G>A (p.Arg203His) rs145482271
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.674A>G (p.His225Arg)
NM_000302.4(PLOD1):c.678G>A (p.Val226=) rs371007185
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756
NM_000302.4(PLOD1):c.742-6C>T rs569632202
NM_000302.4(PLOD1):c.77-7T>C rs371488160
NM_000302.4(PLOD1):c.774G>A (p.Pro258=) rs753994916
NM_000302.4(PLOD1):c.776G>A (p.Arg259His) rs144226170
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796
NM_000302.4(PLOD1):c.789C>T (p.Phe263=) rs908800499
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys)
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577
NM_000302.4(PLOD1):c.844-6G>T rs767068264
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met)
NM_000302.4(PLOD1):c.861G>A (p.Thr287=) rs747570972
NM_000302.4(PLOD1):c.870C>T (p.Val290=) rs373082170
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692
NM_000302.4(PLOD1):c.874G>A (p.Val292Met)
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr) rs565765056
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln) rs960778465
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln) rs992278231
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe) rs1438781151
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr)
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.951C>T (p.His317=) rs770032875
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.975+13C>T rs79345327
NM_000302.4(PLOD1):c.975C>T (p.His325=) rs761576315
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282

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