ClinVar Miner

List of variants studied for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.1621-26G>T rs1865324 0.82320
NM_000182.5(HADHA):c.1393-62A>C rs13387855 0.82311
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000182.5(HADHA):c.573+32T>C rs7593175 0.60341
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_000182.5(HADHA):c.573+26G>C rs35746418 0.17547
NM_000182.5(HADHA):c.67+51G>T rs62128457 0.17544
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.17163
NM_000182.5(HADHA):c.180+69G>C rs2303892 0.17014
NM_000182.5(HADHA):c.68-82T>A rs12987980 0.16953
NM_000182.5(HADHA):c.315-44A>C rs3892649 0.16834
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_000182.5(HADHA):c.573+8dup rs112196218 0.00584
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00505
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00446
NM_000182.5(HADHA):c.2146+16T>C rs145930159 0.00408
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00383
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00372
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155 0.00349
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308 0.00275
NM_000182.5(HADHA):c.-25C>G rs184300489 0.00274
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00054
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00029
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00028
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00020
NM_000182.5(HADHA):c.864A>G (p.Glu288=) rs372425837 0.00017
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg) rs552191498 0.00013
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser) rs148032473 0.00012
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys) rs200955062 0.00011
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00009
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.810G>A (p.Ala270=) rs376632479 0.00009
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957 0.00009
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00009
NM_000182.5(HADHA):c.1515G>A (p.Lys505=) rs543680661 0.00008
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu) rs368455378 0.00008
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00008
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00007
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000182.5(HADHA):c.1935G>A (p.Arg645=) rs762246988 0.00007
NM_000182.5(HADHA):c.2000+9G>A rs200802583 0.00007
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00007
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00005
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765 0.00005
NM_000182.5(HADHA):c.1141G>A (p.Val381Met) rs764067083 0.00004
NM_000182.5(HADHA):c.1209A>G (p.Gln403=) rs780178287 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00004
NM_000182.5(HADHA):c.316A>G (p.Met106Val) rs143122454 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.896C>A (p.Pro299His) rs905722226 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr) rs534553558 0.00003
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser) rs958717402 0.00003
NM_000182.5(HADHA):c.1971G>A (p.Ala657=) rs570854524 0.00003
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe) rs765213828 0.00003
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) rs746968587 0.00003
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp) rs759745527 0.00003
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00002
NM_000182.5(HADHA):c.*494G>T rs886055856 0.00002
NM_000182.5(HADHA):c.1479+1G>T rs1290945516 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala) rs1277103504 0.00002
NM_000182.5(HADHA):c.1889G>A (p.Arg630His) rs150850348 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200 0.00002
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg) rs769625802 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.677-3T>C rs376306806 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn) rs778263925 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496 0.00001
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461 0.00001
NM_000182.5(HADHA):c.1389A>G (p.Glu463=) rs772078762 0.00001
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00001
NM_000182.5(HADHA):c.1432del (p.Ala478fs) rs1303177735 0.00001
NM_000182.5(HADHA):c.1621-7T>C rs774272303 0.00001
NM_000182.5(HADHA):c.1690-2A>G rs1057516217 0.00001
NM_000182.5(HADHA):c.180+1G>A rs786205088 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.1854G>C (p.Leu618=) rs201393639 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs) rs796051971 0.00001
NM_000182.5(HADHA):c.1939G>C (p.Asp647His) rs1669533378 0.00001
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln) rs781303622 0.00001
NM_000182.5(HADHA):c.201G>A (p.Glu67=) rs1574626650 0.00001
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys) rs771028541 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu) rs1348209738 0.00001
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr) rs1281408938 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.315-1G>A rs1458898996 0.00001
NM_000182.5(HADHA):c.315-2A>T rs1297938234 0.00001
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser) rs200549951 0.00001
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000182.5(HADHA):c.68-414A>G rs1045384430 0.00001
NM_000182.5(HADHA):c.751C>T (p.Leu251=) rs778945181 0.00001
NM_000182.5(HADHA):c.777G>A (p.Lys259=) rs142071869 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775 0.00001
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr) rs369774960 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.144+1G>A rs1638698732 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306 0.00001
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) rs1445870588 0.00001
NM_000191.3(HMGCL):c.649A>G (p.Met217Val) rs767993106 0.00001
NM_000191.3(HMGCL):c.766G>A (p.Val256Met) rs764238653 0.00001
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568 0.00001
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter) rs779640035
NM_000182.5(HADHA):c.1052del (p.Lys351fs) rs1057516556
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1096_1097dup (p.Leu367fs) rs2465541119
NM_000182.5(HADHA):c.1137C>G (p.Val379=) rs1669919221
NM_000182.5(HADHA):c.1152del (p.Gly384_Leu385insTer)
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu) rs370054250
NM_000182.5(HADHA):c.1165del (p.Asp391fs) rs2465540902
NM_000182.5(HADHA):c.1202del (p.Gln401fs) rs1057517087
NM_000182.5(HADHA):c.1220+2_1220+5dup rs1553313192
NM_000182.5(HADHA):c.1221-1G>C rs1057516233
NM_000182.5(HADHA):c.1221-2A>G rs2465534656
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer) rs1057516734
NM_000182.5(HADHA):c.1351del (p.Asp451fs) rs2465534236
NM_000182.5(HADHA):c.1493A>G (p.His498Arg) rs752005568
NM_000182.5(HADHA):c.1533dup (p.Ile512fs) rs2465517653
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys) rs763353852
NM_000182.5(HADHA):c.1549del (p.Thr517fs) rs2465517597
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.160del (p.Ile54fs) rs2465608988
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1621-2A>G
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs) rs2465515942
NM_000182.5(HADHA):c.1643C>T (p.Thr548Ile)
NM_000182.5(HADHA):c.1644del (p.Arg549fs) rs1267615713
NM_000182.5(HADHA):c.1653_1668del (p.Ala552fs) rs2465515802
NM_000182.5(HADHA):c.1654G>C (p.Ala552Pro) rs2465515861
NM_000182.5(HADHA):c.1689+2T>C rs1574602991
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del) rs1553312059
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs) rs1278248464
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser) rs376716058
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs) rs2465513035
NM_000182.5(HADHA):c.180_180+5delinsAT rs1553316142
NM_000182.5(HADHA):c.181-1G>A rs2465605379
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) rs1553312033
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly) rs267599303
NM_000182.5(HADHA):c.1844del (p.Asn615fs) rs1669575714
NM_000182.5(HADHA):c.1844dup (p.Asn615fs) rs1669575714
NM_000182.5(HADHA):c.1893del (p.Lys631fs) rs2465508716
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter) rs2465508638
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis) rs796051971
NM_000182.5(HADHA):c.1937_1940del (p.Lys646fs) rs2465508561
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter) rs1553311804
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1A>G (p.Met1Val) rs1057517430
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2020dup (p.Gln674fs) rs868693884
NM_000182.5(HADHA):c.2026del (p.Arg676fs) rs1553311716
NM_000182.5(HADHA):c.2027G>A (p.Arg676His) rs1204190984
NM_000182.5(HADHA):c.2059del (p.Met687fs) rs1553311706
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr) rs1669504364
NM_000182.5(HADHA):c.2064_2081delinsTGGCCTCTGA (p.Leu689_Leu694delinsGlyLeuTer) rs2465505819
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter) rs1057517132
NM_000182.5(HADHA):c.2077del (p.Ile693fs) rs2465505832
NM_000182.5(HADHA):c.2081del (p.Leu694fs) rs2465505815
NM_000182.5(HADHA):c.2090_2115del (p.Pro697fs) rs2465505643
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly) rs1553311698
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2146+2T>C rs1057516350
NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs) rs2465504992
NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs) rs2465504974
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) rs141164185
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter) rs142120825
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=) rs142120825
NM_000182.5(HADHA):c.2222del (p.Gly741fs) rs1553311647
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup) rs1553311646
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs) rs1553311645
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter) rs768855989
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) rs1057516326
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.278C>G (p.Ser93Ter)
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del) rs1553316724
NM_000182.5(HADHA):c.302G>T (p.Gly101Val) rs2465605084
NM_000182.5(HADHA):c.314+1G>C rs1183351612
NM_000182.5(HADHA):c.3G>A (p.Met1Ile) rs1237270916
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe) rs758107197
NM_000182.5(HADHA):c.453+1G>A rs1057516417
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.515del (p.Pro172fs) rs1057517282
NM_000182.5(HADHA):c.531_532insT (p.Ala178fs) rs2465595874
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter) rs2147781182
NM_000182.5(HADHA):c.573+2T>C rs2465595745
NM_000182.5(HADHA):c.574-2A>G rs1670591013
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter) rs1300516636
NM_000182.5(HADHA):c.658C>T (p.Gln220Ter) rs2465591445
NM_000182.5(HADHA):c.67+1G>A rs541591704
NM_000182.5(HADHA):c.676+2T>C rs772683361
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.677-1G>A rs1553314070
NM_000182.5(HADHA):c.677-2A>G rs2465562056
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.800-1G>T rs1553314024
NM_000182.5(HADHA):c.800-1_801del rs1553314023
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu) rs200145855
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.874A>T (p.Lys292Ter) rs2465560325
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.919-1G>A rs1448524929
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000182.5(HADHA):c.959del (p.Tyr320fs) rs2465556864
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.976-2A>G rs2465552540
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs) rs1274176298
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser) rs1638363983
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu) rs1638700415

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