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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 241

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HGVS	dbSNP	gnomAD frequency
NM_006623.3(PHGDH):c.*200A>G	rs17258425	0.11740
NM_005518.4(HMGCS2):c.*332A>C	rs56828380	0.02618
NM_005518.4(HMGCS2):c.*165C>T	rs138575225	0.01059
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.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.241G>A (p.Ala81Thr)	rs151187711	0.00019
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.73C>G (p.Pro25Ala)	rs144744634	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.71C>T (p.Thr24Ile)	rs369221781	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
NM_005518.4(HMGCS2):c.88C>G (p.Pro30Ala)	rs202069145	0.00001
NM_005518.4(HMGCS2):c.95C>T (p.Ala32Val)	rs199651321	0.00001
NC_000001.10:g.(?_120311344)_(120311467_?)del
NC_000001.11:g.(?_119768721)_(119768864_?)del
NC_000001.11:g.(?_119768741)_(119768844_?)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.103A>G (p.Arg35Gly)	rs1653321576
NM_005518.4(HMGCS2):c.1046A>G (p.Asn349Ser)	rs1025175254
NM_005518.4(HMGCS2):c.104G>T (p.Arg35Met)	rs751101083
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.1187+8C>A
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.1344C>T (p.Arg448=)
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.1398A>G (p.Gln466=)
NM_005518.4(HMGCS2):c.1420+15A>G
NM_005518.4(HMGCS2):c.1421-9A>C
NM_005518.4(HMGCS2):c.1425T>C (p.Asn475=)	rs751604096
NM_005518.4(HMGCS2):c.1481G>A (p.Arg494Gln)
NM_005518.4(HMGCS2):c.1498C>T (p.Arg500Cys)
NM_005518.4(HMGCS2):c.1502G>A (p.Arg501Gln)
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.349A>G (p.Ile117Val)
NM_005518.4(HMGCS2):c.366C>T (p.Asp122=)
NM_005518.4(HMGCS2):c.369T>C (p.Ser123=)	rs780926888
NM_005518.4(HMGCS2):c.384A>G (p.Glu128=)
NM_005518.4(HMGCS2):c.393T>C (p.Thr131=)
NM_005518.4(HMGCS2):c.39A>G (p.Gln13=)
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.634G>T (p.Gly212Ter)
NM_005518.4(HMGCS2):c.644C>T (p.Ala215Val)
NM_005518.4(HMGCS2):c.660C>A (p.Pro220=)
NM_005518.4(HMGCS2):c.672G>A (p.Leu224=)
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+18A>G
NM_005518.4(HMGCS2):c.685+19C>T	rs2101263634
NM_005518.4(HMGCS2):c.686-17T>C
NM_005518.4(HMGCS2):c.687del
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.719A>T (p.Asp240Val)
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)	rs145838142
NM_005518.4(HMGCS2):c.72dup (p.Pro25fs)	rs2101283564
NM_005518.4(HMGCS2):c.73C>T (p.Pro25Ser)	rs144744634
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.79C>T (p.Arg27Cys)
NM_005518.4(HMGCS2):c.810C>G (p.Tyr270Ter)	rs751009381
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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