ClinVar Miner

List of variants in gene HMGCS2 studied for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=) rs1992376 0.00546
NM_005518.4(HMGCS2):c.*822G>A rs116264779 0.00529
NM_005518.4(HMGCS2):c.-11C>T rs2289459 0.00299
NM_005518.4(HMGCS2):c.*12A>C rs182407677 0.00238
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_005518.4(HMGCS2):c.270G>A (p.Gln90=) rs41302817 0.00216
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) rs76773981 0.00207
NM_005518.4(HMGCS2):c.*78A>G rs143718202 0.00184
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=) rs138739620 0.00153
NM_005518.3(HMGCS2):c.*862G>A rs752746599 0.00043
NM_005518.4(HMGCS2):c.1017-18C>T rs373664352 0.00034
NM_005518.4(HMGCS2):c.241G>A (p.Ala81Thr) rs151187711 0.00029
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=) rs201735169 0.00024
NM_005518.4(HMGCS2):c.347G>A (p.Arg116His) rs147906427 0.00021
NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418 0.00020
NM_005518.4(HMGCS2):c.953A>G (p.Asn318Ser) rs766507770 0.00020
NM_005518.4(HMGCS2):c.274C>G (p.Arg92Gly) rs771955824 0.00018
NM_005518.4(HMGCS2):c.1311G>A (p.Lys437=) rs111284724 0.00016
NM_005518.4(HMGCS2):c.813A>G (p.Thr271=) rs765772883 0.00016
NM_005518.4(HMGCS2):c.851-14G>A rs188523700 0.00016
NM_005518.4(HMGCS2):c.1153T>A (p.Ser385Thr) rs4716 0.00015
NM_005518.4(HMGCS2):c.559+8C>T rs377651850 0.00012
NM_005518.4(HMGCS2):c.894G>A (p.Met298Ile) rs138086607 0.00012
NM_005518.4(HMGCS2):c.358C>A (p.Pro120Thr) rs758033248 0.00011
NM_005518.4(HMGCS2):c.8G>A (p.Arg3His) rs72695184 0.00011
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met) rs181428774 0.00010
NM_005518.4(HMGCS2):c.26A>G (p.Lys9Arg) rs144004292 0.00010
NM_005518.4(HMGCS2):c.586G>C (p.Asp196His) rs149314406 0.00010
NM_005518.4(HMGCS2):c.146C>T (p.Thr49Ile) rs756404916 0.00009
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His) rs370058829 0.00008
NM_005518.4(HMGCS2):c.275G>A (p.Arg92His) rs144921290 0.00007
NM_005518.4(HMGCS2):c.790C>T (p.Arg264Trp) rs773945291 0.00007
NM_005518.4(HMGCS2):c.1016+1G>A rs771607178 0.00006
NM_005518.4(HMGCS2):c.1420+13T>C rs771878586 0.00006
NM_005518.4(HMGCS2):c.364G>A (p.Asp122Asn) rs368014391 0.00006
NM_005518.4(HMGCS2):c.803G>A (p.Arg268Gln) rs371306326 0.00006
NM_005518.4(HMGCS2):c.1289C>T (p.Ala430Val) rs141769037 0.00005
NM_005518.4(HMGCS2):c.502G>A (p.Gly168Ser) rs746217014 0.00005
NM_005518.4(HMGCS2):c.851-19T>C rs373541639 0.00005
NM_005518.4(HMGCS2):c.1161C>T (p.Tyr387=) rs756169207 0.00004
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter) rs137852637 0.00004
NM_005518.4(HMGCS2):c.1325C>T (p.Thr442Ile) rs765680777 0.00004
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00004
NM_005518.4(HMGCS2):c.35T>A (p.Leu12Gln) rs939049952 0.00004
NM_005518.4(HMGCS2):c.501C>T (p.Tyr167=) rs758839673 0.00004
NM_005518.4(HMGCS2):c.50C>T (p.Ala17Val) rs587712415 0.00004
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu) rs137852636 0.00004
NM_005518.4(HMGCS2):c.595G>A (p.Val199Ile) rs150140061 0.00004
NM_005518.4(HMGCS2):c.1016+10C>T rs770388243 0.00003
NM_005518.4(HMGCS2):c.105-3C>T rs1035647830 0.00003
NM_005518.4(HMGCS2):c.1513C>T (p.Arg505Trp) rs780044819 0.00003
NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln) rs372095379 0.00003
NM_005518.4(HMGCS2):c.880G>A (p.Asp294Asn) rs144103604 0.00003
NM_005518.4(HMGCS2):c.*765G>A rs587722758 0.00002
NM_005518.4(HMGCS2):c.1127C>T (p.Thr376Ile) rs772359110 0.00002
NM_005518.4(HMGCS2):c.1220T>C (p.Ile407Thr) rs766898190 0.00002
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=) rs773364048 0.00002
NM_005518.4(HMGCS2):c.346C>T (p.Arg116Cys) rs200607527 0.00002
NM_005518.4(HMGCS2):c.685+2T>A rs796051979 0.00002
NM_005518.4(HMGCS2):c.695G>T (p.Gly232Val) rs1002548815 0.00002
NM_005518.4(HMGCS2):c.744G>A (p.Ser248=) rs1219952938 0.00002
NM_005518.4(HMGCS2):c.830T>A (p.Ile277Asn) rs775637086 0.00002
NM_005518.4(HMGCS2):c.891C>T (p.Tyr297=) rs1048438 0.00002
NM_005518.4(HMGCS2):c.940C>T (p.Arg314Cys) rs781567781 0.00002
NM_005518.4(HMGCS2):c.-36T>G rs768747562 0.00001
NM_005518.4(HMGCS2):c.1016+19G>T rs781641917 0.00001
NM_005518.4(HMGCS2):c.1017-2A>G rs111313628 0.00001
NM_005518.4(HMGCS2):c.1082A>G (p.Gln361Arg) rs1286357569 0.00001
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=) rs200675569 0.00001
NM_005518.4(HMGCS2):c.1132A>C (p.Asn378His) rs746227549 0.00001
NM_005518.4(HMGCS2):c.1162G>A (p.Gly388Arg) rs752626288 0.00001
NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu) rs766097440 0.00001
NM_005518.4(HMGCS2):c.1187+1G>C rs764706394 0.00001
NM_005518.4(HMGCS2):c.1187+7A>T rs769416687 0.00001
NM_005518.4(HMGCS2):c.1271G>A (p.Arg424Gln) rs748252959 0.00001
NM_005518.4(HMGCS2):c.1405C>G (p.Gln469Glu) rs754218759 0.00001
NM_005518.4(HMGCS2):c.1421-17T>C rs755145375 0.00001
NM_005518.4(HMGCS2):c.1451G>T (p.Ser484Ile) rs763005476 0.00001
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter) rs776399237 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met) rs28937320 0.00001
NM_005518.4(HMGCS2):c.387A>G (p.Val129=) rs750709310 0.00001
NM_005518.4(HMGCS2):c.559+15G>A rs888099231 0.00001
NM_005518.4(HMGCS2):c.559+1G>A rs587603096 0.00001
NM_005518.4(HMGCS2):c.633C>T (p.Ala211=) rs370124069 0.00001
NM_005518.4(HMGCS2):c.714G>A (p.Val238=) rs1419921025 0.00001
NM_005518.4(HMGCS2):c.743C>T (p.Ser248Leu) rs768912442 0.00001
NM_005518.4(HMGCS2):c.879C>T (p.Asp293=) rs761787433 0.00001
NC_000001.10:g.(?_120311344)_(120311467_?)del
NC_000001.11:g.(?_119768721)_(119768864_?)del
NM_005518.4(HMGCS2):c.*139C>A rs965967252
NM_005518.4(HMGCS2):c.*155C>T rs587686291
NM_005518.4(HMGCS2):c.*6-11_*6-8del rs757178898
NM_005518.4(HMGCS2):c.*792G>A rs41313276
NM_005518.4(HMGCS2):c.1015G>A (p.Gly339Arg)
NM_005518.4(HMGCS2):c.1015G>T (p.Gly339Trp) rs775277893
NM_005518.4(HMGCS2):c.1017-12G>A
NM_005518.4(HMGCS2):c.1017-2del rs1553240165
NM_005518.4(HMGCS2):c.1017G>C (p.Gly339=) rs777182302
NM_005518.4(HMGCS2):c.1020G>A (p.Gly340=)
NM_005518.4(HMGCS2):c.1029G>A (p.Leu343=)
NM_005518.4(HMGCS2):c.1030G>T (p.Glu344Ter) rs2101254797
NM_005518.4(HMGCS2):c.1046A>G (p.Asn349Ser) rs1025175254
NM_005518.4(HMGCS2):c.105-8C>T
NM_005518.4(HMGCS2):c.1078T>G (p.Ser360Ala) rs1286992834
NM_005518.4(HMGCS2):c.1080T>G (p.Ser360=)
NM_005518.4(HMGCS2):c.1090T>A (p.Phe364Ile) rs1652807016
NM_005518.4(HMGCS2):c.1092C>G (p.Phe364Leu)
NM_005518.4(HMGCS2):c.1093G>A (p.Asp365Asn)
NM_005518.4(HMGCS2):c.1095C>G (p.Asp365Glu) rs587690380
NM_005518.4(HMGCS2):c.1112C>G (p.Ser371Cys)
NM_005518.4(HMGCS2):c.1118A>C (p.Tyr373Ser) rs1652805414
NM_005518.4(HMGCS2):c.1119C>T (p.Tyr373=)
NM_005518.4(HMGCS2):c.1142T>G (p.Met381Arg) rs771289268
NM_005518.4(HMGCS2):c.1156C>A (p.Leu386Met)
NM_005518.4(HMGCS2):c.1156dup (p.Leu386fs) rs1571033506
NM_005518.4(HMGCS2):c.1188-17G>T
NM_005518.4(HMGCS2):c.1201G>T (p.Glu401Ter) rs1454719802
NM_005518.4(HMGCS2):c.1229dup (p.Ser411fs)
NM_005518.4(HMGCS2):c.1254A>G (p.Ala418=) rs2101249712
NM_005518.4(HMGCS2):c.1256G>A (p.Ser419Asn)
NM_005518.4(HMGCS2):c.1262T>G (p.Phe421Cys) rs1652723339
NM_005518.4(HMGCS2):c.126C>G (p.Val42=)
NM_005518.4(HMGCS2):c.126C>T (p.Val42=)
NM_005518.4(HMGCS2):c.1295-12T>C
NM_005518.4(HMGCS2):c.1316T>C (p.Val439Ala)
NM_005518.4(HMGCS2):c.1333C>T (p.Leu445=) rs754122611
NM_005518.4(HMGCS2):c.1347_1351del (p.Ala450fs) rs2101248147
NM_005518.4(HMGCS2):c.1350C>T (p.Ala450=)
NM_005518.4(HMGCS2):c.1354C>T (p.Arg452Ter)
NM_005518.4(HMGCS2):c.1355G>A (p.Arg452Gln) rs770800317
NM_005518.4(HMGCS2):c.135C>T (p.Ala45=)
NM_005518.4(HMGCS2):c.1368T>C (p.Ser456=)
NM_005518.4(HMGCS2):c.1372G>A (p.Glu458Lys)
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs) rs779321975
NM_005518.4(HMGCS2):c.1421-9A>C
NM_005518.4(HMGCS2):c.1425T>C (p.Asn475=) rs751604096
NM_005518.4(HMGCS2):c.1498C>T (p.Arg500Cys)
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) rs372079931
NM_005518.4(HMGCS2):c.1514G>A (p.Arg505Gln)
NM_005518.4(HMGCS2):c.1521C>T (p.Pro507=)
NM_005518.4(HMGCS2):c.158A>G (p.Asp53Gly)
NM_005518.4(HMGCS2):c.159C>T (p.Asp53=)
NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)
NM_005518.4(HMGCS2):c.182T>G (p.Val61Gly)
NM_005518.4(HMGCS2):c.195C>T (p.Ala65=) rs1571042762
NM_005518.4(HMGCS2):c.205G>A (p.Asp69Asn)
NM_005518.4(HMGCS2):c.220G>A (p.Glu74Lys) rs587688416
NM_005518.4(HMGCS2):c.245G>A (p.Gly82Glu) rs1653149765
NM_005518.4(HMGCS2):c.279G>A (p.Met93Ile) rs1557994090
NM_005518.4(HMGCS2):c.28C>A (p.Arg10Ser)
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)
NM_005518.4(HMGCS2):c.348C>T (p.Arg116=)
NM_005518.4(HMGCS2):c.369T>C (p.Ser123=) rs780926888
NM_005518.4(HMGCS2):c.393T>C (p.Thr131=)
NM_005518.4(HMGCS2):c.39dup (p.Leu14fs) rs2101283660
NM_005518.4(HMGCS2):c.407A>G (p.Asp136Gly) rs2101273359
NM_005518.4(HMGCS2):c.411G>A (p.Lys137=)
NM_005518.4(HMGCS2):c.412T>C (p.Ser138Pro) rs764209022
NM_005518.4(HMGCS2):c.422T>A (p.Val141Asp) rs1406920400
NM_005518.4(HMGCS2):c.428C>G (p.Thr143Arg) rs760689678
NM_005518.4(HMGCS2):c.500A>G (p.Tyr167Cys) rs137852640
NM_005518.4(HMGCS2):c.512C>T (p.Ala171Val) rs1653132966
NM_005518.4(HMGCS2):c.51G>A (p.Ala17=)
NM_005518.4(HMGCS2):c.533A>G (p.Asn178Ser) rs1386957244
NM_005518.4(HMGCS2):c.540G>T (p.Met180Ile) rs1161245291
NM_005518.4(HMGCS2):c.559+13A>T
NM_005518.4(HMGCS2):c.559+5G>A rs2101272766
NM_005518.4(HMGCS2):c.559+9G>A
NM_005518.4(HMGCS2):c.559+9G>T
NM_005518.4(HMGCS2):c.560-13T>C
NM_005518.4(HMGCS2):c.560-3C>T rs1652986854
NM_005518.4(HMGCS2):c.56A>G (p.Gln19Arg) rs2101283600
NM_005518.4(HMGCS2):c.589A>G (p.Ile197Val) rs2101263939
NM_005518.4(HMGCS2):c.605G>A (p.Ser202Asn)
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=) rs886045207
NM_005518.4(HMGCS2):c.633C>A (p.Ala211=)
NM_005518.4(HMGCS2):c.675C>T (p.Ala225=) rs2101263677
NM_005518.4(HMGCS2):c.682C>T (p.Arg228Ter) rs763531478
NM_005518.4(HMGCS2):c.685+13C>G
NM_005518.4(HMGCS2):c.685+19C>T rs2101263634
NM_005518.4(HMGCS2):c.686-17T>C
NM_005518.4(HMGCS2):c.701A>G (p.His234Arg) rs2101262615
NM_005518.4(HMGCS2):c.704T>C (p.Met235Thr) rs773806829
NM_005518.4(HMGCS2):c.705G>A (p.Met235Ile) rs2101262597
NM_005518.4(HMGCS2):c.717T>G (p.Tyr239Ter) rs1652955748
NM_005518.4(HMGCS2):c.719A>C (p.Asp240Ala) rs762211049
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) rs145838142
NM_005518.4(HMGCS2):c.754A>G (p.Ile252Val)
NM_005518.4(HMGCS2):c.772del (p.Ser258fs) rs1553240525
NM_005518.4(HMGCS2):c.786C>T (p.Tyr262=)
NM_005518.4(HMGCS2):c.788del (p.Leu263fs) rs2101262353
NM_005518.4(HMGCS2):c.797T>C (p.Leu266Ser)
NM_005518.4(HMGCS2):c.814T>C (p.Ser272Pro) rs1571037413
NM_005518.4(HMGCS2):c.822T>C (p.Arg274=) rs1571037388
NM_005518.4(HMGCS2):c.850+17G>A
NM_005518.4(HMGCS2):c.850+2T>C rs1571037298
NM_005518.4(HMGCS2):c.851-2A>C rs1652885850
NM_005518.4(HMGCS2):c.851C>G (p.Ala284Gly)
NM_005518.4(HMGCS2):c.862C>A (p.Arg288=) rs142637231
NM_005518.4(HMGCS2):c.862C>T (p.Arg288Ter) rs142637231
NM_005518.4(HMGCS2):c.866C>A (p.Pro289His) rs146296049
NM_005518.4(HMGCS2):c.874C>A (p.Leu292Ile) rs769844821
NM_005518.4(HMGCS2):c.887A>C (p.Gln296Pro)
NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile) rs1652875135
NM_005518.4(HMGCS2):c.941G>A (p.Arg314His)
NM_005518.4(HMGCS2):c.973A>G (p.Ser325Gly)
NM_005518.4(HMGCS2):c.990C>T (p.Ser330=) rs2101258162
NM_005518.4(HMGCS2):c.991T>C (p.Leu331=) rs776664576

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