ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, kyphoscoliotic type 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 345
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HGVS dbSNP gnomAD frequency
NM_000302.3(PLOD1):c.-77G>A rs144465849 0.00649
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
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.608G>A (p.Arg203His) rs145482271 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.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280 0.00021
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met) rs748526375 0.00019
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val) rs144702307 0.00017
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
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.472A>G (p.Ile158Val) rs147924545 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr) rs199669594 0.00013
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr) rs143604754 0.00012
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927 0.00010
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys) rs750301725 0.00010
NM_000302.4(PLOD1):c.*721T>G rs142707437 0.00009
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.1303G>A (p.Val435Met) rs752708558 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly) rs377497101 0.00007
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535 0.00007
NM_000302.4(PLOD1):c.*128A>G rs927504122 0.00006
NM_000302.4(PLOD1):c.*528G>A rs886045215 0.00006
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val) rs142916043 0.00006
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu) rs375416784 0.00006
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val) rs756600025 0.00006
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser) rs538763801 0.00006
NM_000302.4(PLOD1):c.874G>A (p.Val292Met) rs143114026 0.00006
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp) rs11553674 0.00006
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln) rs370305686 0.00005
NM_000302.4(PLOD1):c.1202+3G>A rs370358836 0.00005
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys) rs763672034 0.00005
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124 0.00005
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln) rs992278231 0.00005
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr) rs141881216 0.00005
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp) rs959635301 0.00005
NM_000302.3(PLOD1):c.-64C>G rs886045195 0.00004
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.1388G>A (p.Arg463Gln) rs750100311 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met) rs770120389 0.00004
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937 0.00004
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767 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.975C>T (p.His325=) rs761576315 0.00004
NM_000302.4(PLOD1):c.*148C>G rs886045211 0.00003
NM_000302.4(PLOD1):c.-39G>T rs769995450 0.00003
NM_000302.4(PLOD1):c.1098-3C>T rs541901674 0.00003
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893 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.1658C>T (p.Pro553Leu) rs754569828 0.00003
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val) rs369696269 0.00003
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp) rs748646169 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.184G>A (p.Glu62Lys) rs146092290 0.00003
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648 0.00003
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile) rs370498584 0.00003
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys) rs754650948 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.407G>A (p.Arg136His) rs148510973 0.00003
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys) rs780519821 0.00003
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577 0.00003
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079 0.00003
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val) rs763906693 0.00002
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met) rs371223839 0.00002
NM_000302.4(PLOD1):c.128G>A (p.Arg43His) rs141704997 0.00002
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln) rs150184664 0.00002
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu) rs1485759254 0.00002
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser) rs761352524 0.00002
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser) rs764750668 0.00002
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln) rs1282397747 0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897 0.00002
NM_000302.4(PLOD1):c.302+5G>A rs749607584 0.00002
NM_000302.4(PLOD1):c.310G>A (p.Val104Met) rs141809154 0.00002
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr) rs1156606108 0.00002
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp) rs746416126 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln) rs776949094 0.00002
NM_000302.4(PLOD1):c.844-6G>T rs767068264 0.00002
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu) rs760230526 0.00002
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp) rs370736543 0.00002
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser) rs200524993 0.00002
NM_000302.4(PLOD1):c.-58G>A rs552712043 0.00001
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp) rs1195535094 0.00001
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys) rs748344499 0.00001
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891 0.00001
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.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys) rs538407894 0.00001
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys) rs373520363 0.00001
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys) rs764179880 0.00001
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp) rs1428519006 0.00001
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln) rs767839550 0.00001
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro) rs1434675020 0.00001
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile) rs773517731 0.00001
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu) rs753623016 0.00001
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432 0.00001
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720 0.00001
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp) rs1204551467 0.00001
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser) rs758780380 0.00001
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile) rs780133138 0.00001
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048 0.00001
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe) rs1374717198 0.00001
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His) rs773170096 0.00001
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr) rs746905101 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val) rs376017234 0.00001
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp) rs769499769 0.00001
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu) rs766973023 0.00001
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885 0.00001
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val) rs1487304416 0.00001
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln) rs755654001 0.00001
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys) rs748841458 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter) rs373094220 0.00001
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val) rs1415378080 0.00001
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met) rs780253192 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207 0.00001
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp) rs772221158 0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398 0.00001
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln) rs781455578 0.00001
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser) rs768422539 0.00001
NM_000302.4(PLOD1):c.466+3G>A rs779840832 0.00001
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser) rs750416079 0.00001
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys) rs534314930 0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala) rs376643174 0.00001
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg) rs1438879558 0.00001
NM_000302.4(PLOD1):c.741+4G>C rs763641520 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp) rs558752942 0.00001
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645 0.00001
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile) rs776894307 0.00001
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser) rs748920493 0.00001
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met) rs777957649 0.00001
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692 0.00001
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu) rs532145123 0.00001
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln) rs960778465 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NC_000001.10:g.(?_11847760)_(12066770_?)dup
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_11994837)_(12034865_?)dup
NC_000001.10:g.(?_12008013)_(12010597_?)del
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.11:g.(?_11934770)_(11934865_?)dup
NM_000302.4(PLOD1):c.*117A>G rs886045210
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.*461G>T rs1271843257
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr) rs2100756894
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe) rs749210400
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu) rs2230896
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly) rs998178222
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser) rs760764359
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu) rs2100757756
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro) rs1569721294
NM_000302.4(PLOD1):c.125G>A (p.Arg42His) rs202116614
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala) rs1645800221
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln) rs934141011
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe) rs1445338657
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys) rs1264798278
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val) rs1645803161
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro) rs2100758364
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val) rs2100758386
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser) rs1490187110
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg) rs1156431423
NM_000302.4(PLOD1):c.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1471-14C>T rs2100759144
NM_000302.4(PLOD1):c.1471-9C>A rs376476977
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn) rs1283020139
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly) rs2100759169
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile) rs750942824
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys) rs1645810603
NM_000302.4(PLOD1):c.1511_1513del (p.His504del) rs2100759209
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu) rs1429074293
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys) rs758701213
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser) rs1324129456
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe) rs377325169
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys) rs761949919
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val) rs753862253
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr) rs1645823972
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp) rs1331435501
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
NM_000302.4(PLOD1):c.1756-13C>A
NM_000302.4(PLOD1):c.1756-20T>G rs1310114003
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro) rs2100764621
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala) rs138106022
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln) rs768638113
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met) rs760314787
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala) rs920188548
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp) rs1645857603
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys) rs752084194
NM_000302.4(PLOD1):c.1902+3G>A rs1645857795
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp) rs1281801241
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys) rs1010336383
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser) rs2100768765
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val) rs1553137685
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn) rs1645891475
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His) rs1645892067
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu) rs2100743367
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val) rs2100743381
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser) rs781689639
NM_000302.4(PLOD1):c.2164del (p.Val722fs) rs1645892679
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile) rs151247380
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu) rs151247380
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val) rs1034357016
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
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) rs1348207190
NM_000302.4(PLOD1):c.262C>G (p.His88Asp) rs1645686634
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
NM_000302.4(PLOD1):c.302+3_302+6del rs2100743549
NM_000302.4(PLOD1):c.302+5G>C rs749607584
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
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.332G>A (p.Arg111Gln)
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys) rs1645691095
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
NM_000302.4(PLOD1):c.369G>C (p.Gln123His) rs1645691361
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile) rs984869224
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu) rs144702307
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
NM_000302.4(PLOD1):c.466+65C>A
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) rs1402614845
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly) rs1569694008
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn) rs188165334
NM_000302.4(PLOD1):c.535G>C (p.Asp179His) rs188165334
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg) rs2100746537
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp) rs1645711960
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg) rs375416784
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+3A>C rs1645712158
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu) rs1645566854
NM_000302.4(PLOD1):c.644-19T>C
NM_000302.4(PLOD1):c.652G>A (p.Val218Met) rs372534520
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro) rs1392799816
NM_000302.4(PLOD1):c.674A>G (p.His225Arg) rs1176136454
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn) rs1645742510
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu) rs1438879558
NM_000302.4(PLOD1):c.723T>G (p.His241Gln) rs2100750549
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala) rs774044489
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val) rs2100751390
NM_000302.4(PLOD1):c.77-3403T>C rs1645637106
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn) rs2100751465
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser) rs2100741705
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys) rs1267512667
NM_000302.4(PLOD1):c.844-3C>G rs2100752095
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp) rs1394486748
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu) rs143114026
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe) rs1438781151
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu) rs1645756307
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
NM_000302.4(PLOD1):c.951C>G (p.His317Gln) rs770032875
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.976-3C>T rs1198690797
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000302.4(PLOD1):c.976-7_976-2dup

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.