ClinVar Miner

List of variants in gene PLOD1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_000302.4(PLOD1):c.776G>A (p.Arg259His) rs144226170 0.00076
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796 0.00058
NM_000302.4(PLOD1):c.608G>A (p.Arg203His) rs145482271 0.00034
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.376T>G (p.Phe126Val) rs144702307 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.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr) rs199669594 0.00013
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.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.1115A>G (p.Asp372Gly) rs377497101 0.00007
NM_000302.4(PLOD1):c.1903-5T>A rs776128914 0.00007
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535 0.00007
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.764A>G (p.Asn255Ser) rs538763801 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.970A>G (p.Asn324Asp) rs959635301 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.1388G>A (p.Arg463Gln) rs750100311 0.00004
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met) rs770120389 0.00004
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346 0.00004
NM_000302.4(PLOD1):c.742-5G>A rs746658625 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
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.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.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.407G>A (p.Arg136His) rs148510973 0.00003
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756 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.1153G>A (p.Val385Met) rs371223839 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.1888G>A (p.Gly630Ser) rs764750668 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000302.4(PLOD1):c.310G>A (p.Val104Met) rs141809154 0.00002
NM_000302.4(PLOD1):c.355C>A (p.Gln119Lys) rs769620321 0.00002
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr) rs1156606108 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.1027G>A (p.Glu343Lys) rs748344499 0.00001
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln) rs767839550 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.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.1780G>A (p.Glu594Lys) rs777937910 0.00001
NM_000302.4(PLOD1):c.1862C>T (p.Ala621Val) rs774249367 0.00001
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu) rs766973023 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.209C>T (p.Thr70Met) rs780253192 0.00001
NM_000302.4(PLOD1):c.214G>T (p.Ala72Ser) rs1343912990 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.353G>A (p.Arg118Gln) rs781455578 0.00001
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser) rs768422539 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.741+4G>C rs763641520 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.896C>T (p.Pro299Leu) rs532145123 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000302.4(PLOD1):c.*4G>A rs750397415
NM_000302.4(PLOD1):c.*4G>T rs750397415
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.103A>G (p.Thr35Ala)
NM_000302.4(PLOD1):c.1118G>A (p.Arg373His)
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu) rs2230896
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly) rs998178222
NM_000302.4(PLOD1):c.1156G>A (p.Ala386Thr)
NM_000302.4(PLOD1):c.1176C>A (p.Ser392Arg)
NM_000302.4(PLOD1):c.1213G>T (p.Ala405Ser)
NM_000302.4(PLOD1):c.1214C>T (p.Ala405Val)
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.1228C>G (p.Arg410Gly)
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.1256G>C (p.Trp419Ser)
NM_000302.4(PLOD1):c.125G>A (p.Arg42His) rs202116614
NM_000302.4(PLOD1):c.1261G>A (p.Ala421Thr)
NM_000302.4(PLOD1):c.1271C>T (p.Ala424Val)
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln) rs934141011
NM_000302.4(PLOD1):c.1366T>G (p.Leu456Val)
NM_000302.4(PLOD1):c.1419C>A (p.His473Gln)
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.1535G>T (p.Arg512Leu)
NM_000302.4(PLOD1):c.153C>G (p.Phe51Leu)
NM_000302.4(PLOD1):c.1544A>G (p.His515Arg)
NM_000302.4(PLOD1):c.155A>G (p.Asn52Ser)
NM_000302.4(PLOD1):c.1591A>C (p.Lys531Gln)
NM_000302.4(PLOD1):c.1598A>G (p.Lys533Arg)
NM_000302.4(PLOD1):c.1615T>C (p.Tyr539His)
NM_000302.4(PLOD1):c.1631_1632delinsGC (p.Ala544Gly)
NM_000302.4(PLOD1):c.1670G>C (p.Trp557Ser) rs1052289406
NM_000302.4(PLOD1):c.1672T>C (p.Phe558Leu)
NM_000302.4(PLOD1):c.1745G>A (p.Gly582Asp)
NM_000302.4(PLOD1):c.1748A>G (p.Asn583Ser)
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
NM_000302.4(PLOD1):c.1769A>G (p.Gln590Arg)
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1786G>A (p.Val596Met)
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
NM_000302.4(PLOD1):c.1808T>A (p.Met603Lys)
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.1878G>T (p.Lys626Asn)
NM_000302.4(PLOD1):c.1931G>A (p.Arg644His)
NM_000302.4(PLOD1):c.1945G>A (p.Glu649Lys)
NM_000302.4(PLOD1):c.1961T>C (p.Met654Thr)
NM_000302.4(PLOD1):c.1968C>G (p.His656Gln)
NM_000302.4(PLOD1):c.1969C>T (p.His657Tyr)
NM_000302.4(PLOD1):c.1982C>T (p.Thr661Ile)
NM_000302.4(PLOD1):c.1998C>G (p.Ile666Met)
NM_000302.4(PLOD1):c.2026G>A (p.Glu676Lys)
NM_000302.4(PLOD1):c.2028+3G>T
NM_000302.4(PLOD1):c.2063C>G (p.Ser688Cys)
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val) rs1553137685
NM_000302.4(PLOD1):c.2108G>A (p.Arg703Gln)
NM_000302.4(PLOD1):c.2153G>A (p.Arg718His)
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile) rs151247380
NM_000302.4(PLOD1):c.2176G>A (p.Asp726Asn)
NM_000302.4(PLOD1):c.217G>A (p.Gly73Ser)
NM_000302.4(PLOD1):c.268G>A (p.Asp90Asn)
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.338T>C (p.Leu113Pro)
NM_000302.4(PLOD1):c.361A>G (p.Arg121Gly)
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
NM_000302.4(PLOD1):c.395T>C (p.Ile132Thr)
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
NM_000302.4(PLOD1):c.439G>A (p.Asp147Asn)
NM_000302.4(PLOD1):c.449G>C (p.Arg150Thr)
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) rs1402614845
NM_000302.4(PLOD1):c.533G>A (p.Ser178Asn)
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.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.579G>T (p.Arg193Ser) rs1553134266
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
NM_000302.4(PLOD1):c.644-3C>T
NM_000302.4(PLOD1):c.64G>T (p.Ala22Ser)
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.668T>C (p.Met223Thr)
NM_000302.4(PLOD1):c.670G>A (p.Gly224Ser)
NM_000302.4(PLOD1):c.674A>G (p.His225Arg) rs1176136454
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu) rs566018612
NM_000302.4(PLOD1):c.70C>A (p.Pro24Thr)
NM_000302.4(PLOD1):c.722A>G (p.His241Arg)
NM_000302.4(PLOD1):c.730G>A (p.Gly244Arg)
NM_000302.4(PLOD1):c.73G>C (p.Glu25Gln)
NM_000302.4(PLOD1):c.77A>G (p.Asp26Gly)
NM_000302.4(PLOD1):c.790G>A (p.Glu264Lys)
NM_000302.4(PLOD1):c.821T>C (p.Leu274Ser)
NM_000302.4(PLOD1):c.823C>T (p.Arg275Cys)
NM_000302.4(PLOD1):c.911T>A (p.Phe304Tyr)
NM_000302.4(PLOD1):c.914T>C (p.Phe305Ser)
NM_000302.4(PLOD1):c.956G>A (p.Arg319Gln)
NM_000302.4(PLOD1):c.976-3C>T rs1198690797
NM_000302.4(PLOD1):c.980A>G (p.Gln327Arg)

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