ClinVar Miner

List of variants reported as uncertain significance for amino acid or protein metabolism disease with epilepsy by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 380
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HGVS dbSNP
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NC_000009.11:g.(?_6587121)_(6645519_?)dup
NC_000009.11:g.(?_6620164)_(6645519_?)dup
NC_000009.11:g.(?_6620184)_(6720997_?)dup
NC_000009.12:g.(?_6532997)_(6540166_?)dup
NC_000014.8:g.(?_67346637)_(67391029_?)dup
NC_000014.9:g.(?_65957717)_(66508591_?)dup
NC_000014.9:g.(?_66965171)_(67100931_?)dup
NC_000014.9:g.(?_67058629)_(67180957_?)dup
NC_000016.10:g.(?_81082846)_(81096298_?)del
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NC_000022.10:g.(?_18900668)_(18923820_?)dup
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser)
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.731A>C (p.His244Pro)
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro)
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039+6T>G
NM_000071.2(CBS):c.1070C>G (p.Ala357Gly) rs863223437
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1106G>A (p.Arg369His) rs11700812
NM_000071.2(CBS):c.1114G>A (p.Val372Ile)
NM_000071.2(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.2(CBS):c.1205T>C (p.Leu402Pro) rs371214833
NM_000071.2(CBS):c.1237C>T (p.Arg413Cys)
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.1315C>T (p.Arg439Trp)
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1337C>T (p.Ala446Val) rs757347527
NM_000071.2(CBS):c.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1379C>T (p.Thr460Met) rs752596508
NM_000071.2(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.2(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) rs1060500680
NM_000071.2(CBS):c.1551G>A (p.Gln517=) rs750311684
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.2(CBS):c.1564G>A (p.Gly522Arg)
NM_000071.2(CBS):c.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.1597G>T (p.Val533Leu) rs1568916218
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.209+5G>C rs1555876750
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
NM_000071.2(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) rs112029370
NM_000071.2(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.2(CBS):c.313C>G (p.Leu105Val)
NM_000071.2(CBS):c.316+5G>C
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.2(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.395G>A (p.Arg132His) rs779011920
NM_000071.2(CBS):c.400G>A (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.404C>T (p.Thr135Met) rs144832032
NM_000071.2(CBS):c.422C>T (p.Thr141Met)
NM_000071.2(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.2(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.2(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.538G>A (p.Val180Met)
NM_000071.2(CBS):c.545G>A (p.Arg182Gln)
NM_000071.2(CBS):c.548C>T (p.Ala183Val) rs374464810
NM_000071.2(CBS):c.588G>C (p.Arg196Ser) rs555751528
NM_000071.2(CBS):c.599C>T (p.Pro200Leu)
NM_000071.2(CBS):c.616G>A (p.Val206Met) rs369220569
NM_000071.2(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.68C>T (p.Ser23Leu)
NM_000071.2(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.2(CBS):c.745G>A (p.Asp249Asn) rs767397847
NM_000071.2(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.2(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.2(CBS):c.766G>A (p.Gly256Ser) rs1000697114
NM_000071.2(CBS):c.775G>A (p.Gly259Ser) rs143124288
NM_000071.2(CBS):c.791T>C (p.Ile264Thr)
NM_000071.2(CBS):c.825C>T (p.Cys275=)
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.2(CBS):c.866A>G (p.Glu289Gly)
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.925G>A (p.Asp309Asn)
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+5G>T rs1568928886
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)
NM_000071.3(CBS):c.1468-6T>G
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val)
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.921C>G (p.Gly307=)
NM_000071.3(CBS):c.954G>A (p.Thr318=)
NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) rs149133229
NM_000170.2(GLDC):c.1010G>A (p.Arg337Gln) rs138129131
NM_000170.2(GLDC):c.106G>C (p.Asp36His) rs573883784
NM_000170.2(GLDC):c.110G>A (p.Ser37Asn) rs763471932
NM_000170.2(GLDC):c.1319T>C (p.Ile440Thr) rs386833523
NM_000170.2(GLDC):c.1433A>C (p.Glu478Ala) rs751588571
NM_000170.2(GLDC):c.1483G>C (p.Glu495Gln) rs1554646734
NM_000170.2(GLDC):c.1484_1489del6 rs778109389
NM_000170.2(GLDC):c.1517G>C (p.Arg506Thr) rs754119942
NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) rs557412758
NM_000170.2(GLDC):c.1553C>G (p.Pro518Arg)
NM_000170.2(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.2(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906
NM_000170.2(GLDC):c.1679T>C (p.Met560Thr)
NM_000170.2(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
NM_000170.2(GLDC):c.1762G>C (p.Ala588Pro)
NM_000170.2(GLDC):c.176G>A (p.Arg59Lys)
NM_000170.2(GLDC):c.1925C>T (p.Thr642Met)
NM_000170.2(GLDC):c.1926+3G>T rs1563839674
NM_000170.2(GLDC):c.1926G>A (p.Thr642=)
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr)
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.197_198delinsAA (p.Arg66Lys) rs1554652780
NM_000170.2(GLDC):c.2137G>A (p.Val713Met) rs912659426
NM_000170.2(GLDC):c.2147T>A (p.Leu716His) rs145018304
NM_000170.2(GLDC):c.2149A>G (p.Ile717Val) rs117460214
NM_000170.2(GLDC):c.2161G>A (p.Gly721Arg)
NM_000170.2(GLDC):c.2230G>A (p.Gly744Arg)
NM_000170.2(GLDC):c.2305C>A (p.Pro769Thr) rs751114163
NM_000170.2(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.2(GLDC):c.2332C>G (p.Pro778Ala) rs1476838990
NM_000170.2(GLDC):c.2333C>G (p.Pro778Arg)
NM_000170.2(GLDC):c.2333C>T (p.Pro778Leu)
NM_000170.2(GLDC):c.234G>C (p.Met78Ile)
NM_000170.2(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.2(GLDC):c.2446G>A (p.Ala816Thr) rs775834004
NM_000170.2(GLDC):c.2518A>G (p.Met840Val) rs781693346
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.2(GLDC):c.2537C>T (p.Thr846Ile) rs747336541
NM_000170.2(GLDC):c.2545A>G (p.Arg849Gly) rs778000679
NM_000170.2(GLDC):c.2570G>A (p.Gly857Asp)
NM_000170.2(GLDC):c.2593T>A (p.Leu865Met)
NM_000170.2(GLDC):c.2612A>G (p.Lys871Arg)
NM_000170.2(GLDC):c.262G>A (p.Asp88Asn) rs770826242
NM_000170.2(GLDC):c.2684T>C (p.Met895Thr) rs769606225
NM_000170.2(GLDC):c.270G>C (p.Leu90Phe) rs747736821
NM_000170.2(GLDC):c.2798T>A (p.Ile933Asn) rs758029533
NM_000170.2(GLDC):c.2818C>T (p.Pro940Ser)
NM_000170.2(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
NM_000170.2(GLDC):c.2919C>T (p.Leu973=) rs113736090
NM_000170.2(GLDC):c.2926G>A (p.Val976Met)
NM_000170.2(GLDC):c.2936A>C (p.Glu979Ala) rs550514750
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000170.2(GLDC):c.2983G>T (p.Asp995Tyr)
NM_000170.2(GLDC):c.2986C>T (p.Gln996Ter) rs1296191006
NM_000170.2(GLDC):c.2991C>A (p.His997Gln) rs757398632
NM_000170.2(GLDC):c.329C>A (p.Pro110His) rs371491621
NM_000170.2(GLDC):c.439_441dup (p.Ile147dup) rs1157234920
NM_000170.2(GLDC):c.4C>A (p.Gln2Lys)
NM_000170.2(GLDC):c.544A>G (p.Met182Val) rs541691467
NM_000170.2(GLDC):c.578A>G (p.Asn193Ser) rs555919940
NM_000170.2(GLDC):c.589C>G (p.Leu197Val) rs1461615694
NM_000170.2(GLDC):c.637C>A (p.His213Asn) rs1210682949
NM_000170.2(GLDC):c.639_641CAA[1] (p.Asn214del) rs1222749984
NM_000170.2(GLDC):c.646A>G (p.Arg216Gly) rs140411475
NM_000170.2(GLDC):c.698T>C (p.Val233Ala) rs140013612
NM_000170.2(GLDC):c.71G>A (p.Gly24Glu) rs967983950
NM_000170.2(GLDC):c.790T>C (p.Phe264Leu)
NM_000170.2(GLDC):c.861+5G>C rs192663616
NM_000170.2(GLDC):c.862-10T>A rs1264036061
NM_000170.2(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys)
NM_000170.3(GLDC):c.1261+3G>A
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser)
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu)
NM_000170.3(GLDC):c.209C>A (p.Pro70His)
NM_000170.3(GLDC):c.20C>T (p.Ala7Val)
NM_000170.3(GLDC):c.2202+6A>G
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu)
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp)
NM_000170.3(GLDC):c.2697G>A (p.Val899=)
NM_000170.3(GLDC):c.861+5G>A
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser)
NM_000170.3(GLDC):c.961G>C (p.Gly321Arg)
NM_000277.3(PAH):c.*144A>G
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) rs1555203737
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
NM_000277.3(PAH):c.1352_1356TAAAG[1] (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406
NM_000277.3(PAH):c.880T>A (p.Phe294Ile) rs1565846198
NM_000481.3(AMT):c.100C>T (p.Arg34Cys) rs143389339
NM_000481.3(AMT):c.1034-1G>C
NM_000481.3(AMT):c.339+3G>T
NM_000481.3(AMT):c.697-3C>T rs373703503
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1138G>A (p.Val380Met)
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367
NM_000481.4(AMT):c.130G>A (p.Ala44Thr)
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
NM_000481.4(AMT):c.158C>T (p.Ala53Val)
NM_000481.4(AMT):c.371G>A (p.Gly124Glu)
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405
NM_000481.4(AMT):c.434A>G (p.Asn145Ser)
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556
NM_000481.4(AMT):c.584T>C (p.Val195Ala)
NM_000481.4(AMT):c.60G>A (p.Pro20=)
NM_000481.4(AMT):c.625G>A (p.Val209Met)
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
NM_000481.4(AMT):c.727C>A (p.Leu243Met)
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859
NM_000481.4(AMT):c.78T>C (p.Leu26=)
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950
NM_000481.4(AMT):c.852G>A (p.Val284=)
NM_000481.4(AMT):c.856G>A (p.Gly286Ser)
NM_000481.4(AMT):c.857G>A (p.Gly286Asp)
NM_000481.4(AMT):c.892G>A (p.Ala298Thr)
NM_000481.4(AMT):c.962T>C (p.Val321Ala)
NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg)
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro)
NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn)
NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser)
NM_001032386.2(SUOX):c.119G>A (p.Arg40His)
NM_001032386.2(SUOX):c.1306G>A (p.Glu436Lys) rs142424431
NM_001032386.2(SUOX):c.1333A>G (p.Ile445Val)
NM_001032386.2(SUOX):c.1388_1389CT[1] (p.Leu464fs)
NM_001032386.2(SUOX):c.1527G>A (p.Lys509=)
NM_001032386.2(SUOX):c.186A>T (p.Leu62Phe) rs1347179760
NM_001032386.2(SUOX):c.199G>C (p.Val67Leu)
NM_001032386.2(SUOX):c.228+1G>A
NM_001032386.2(SUOX):c.890G>A (p.Arg297Gln)
NM_001032386.2(SUOX):c.931G>A (p.Glu311Lys) rs778950352
NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu) rs143457531
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu)
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu)
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys)
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln)
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys)
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) rs766904353
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg)
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu)
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp)
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met)
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr)
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg)
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly) rs1375520384
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu)
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu)
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) rs553730391
NM_001609.3(ACADSB):c.67T>G (p.Leu23Val)
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
NM_002168.3(IDH2):c.23T>C (p.Val8Ala) rs369445642
NM_002168.4(IDH2):c.137T>A (p.Val46Glu)
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr)
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln)
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg)
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met)
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp)
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
NM_004483.5(GCSH):c.133C>G (p.Pro45Ala)
NM_004483.5(GCSH):c.149-3T>C
NM_004483.5(GCSH):c.17T>G (p.Val6Gly) rs1567591606
NM_004483.5(GCSH):c.20G>A (p.Arg7Gln)
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly)
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn) rs779721507
NM_004483.5(GCSH):c.423T>C (p.Asp141=)
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro) rs944048995
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe)
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr)
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr) rs1443267686
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu)
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)
NM_005881.4(BCKDK):c.196-8del
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)
NM_016335.5(PRODH):c.1006G>A (p.Ala336Thr) rs1160517835
NM_016335.5(PRODH):c.1093G>A (p.Val365Ile)
NM_016335.5(PRODH):c.1163C>T (p.Pro388Leu) rs147233639
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.5(PRODH):c.1418T>C (p.Met473Thr) rs1555890224
NM_016335.5(PRODH):c.391C>T (p.Arg131Trp)
NM_016335.5(PRODH):c.80G>T (p.Arg27Leu) rs1411529753
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys)
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)
NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser)
NM_020806.4(GPHN):c.1004C>A (p.Ala335Asp) rs1555466432
NM_020806.4(GPHN):c.1033G>A (p.Val345Met)
NM_020806.4(GPHN):c.1238C>T (p.Ala413Val) rs1555490611
NM_020806.4(GPHN):c.1243G>T (p.Asp415Tyr) rs1567331787
NM_020806.4(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.4(GPHN):c.1333A>C (p.Thr445Pro)
NM_020806.4(GPHN):c.144G>T (p.Leu48Phe) rs1381377609
NM_020806.4(GPHN):c.1558A>T (p.Thr520Ser) rs749747472
NM_020806.4(GPHN):c.1678C>T (p.Arg560Cys) rs1567363565
NM_020806.4(GPHN):c.1766A>G (p.Asn589Ser)
NM_020806.4(GPHN):c.1911-3T>C
NM_020806.4(GPHN):c.1946G>T (p.Gly649Val) rs1555506781
NM_020806.4(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.4(GPHN):c.271G>A (p.Ala91Thr) rs140021399
NM_020806.4(GPHN):c.28A>T (p.Asn10Tyr) rs121908539
NM_020806.4(GPHN):c.307G>A (p.Val103Ile) rs774132595
NM_020806.4(GPHN):c.381G>A (p.Met127Ile) rs1057338763
NM_020806.4(GPHN):c.390-3C>T
NM_020806.4(GPHN):c.543T>G (p.Asp181Glu) rs990423200
NM_020806.4(GPHN):c.592A>C (p.Thr198Pro) rs776521403
NM_020806.4(GPHN):c.716C>G (p.Ala239Gly) rs746967730
NM_020806.4(GPHN):c.826C>T (p.Arg276Trp) rs777009433
NM_020806.4(GPHN):c.86A>G (p.Asn29Ser) rs144247888
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys)
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met)
NM_020806.5(GPHN):c.1238-3C>T
NM_020806.5(GPHN):c.172A>T (p.Ile58Leu)
NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn)
NM_020806.5(GPHN):c.1989G>A (p.Ser663=)
NM_020806.5(GPHN):c.278G>A (p.Arg93Gln)
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr)
NM_020806.5(GPHN):c.64+6C>G
NM_020806.5(GPHN):c.670G>A (p.Val224Ile)
NM_020806.5(GPHN):c.685G>A (p.Asp229Asn)
NM_020806.5(GPHN):c.931C>T (p.Arg311Cys)
NM_020806.5(GPHN):c.941C>T (p.Thr314Ile)
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg)
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) rs770542189
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg)
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro)
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val)
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)

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