ClinVar Miner

List of variants reported as likely benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 392
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HGVS dbSNP
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.927C>T (p.Arg309=) rs749049390
NM_000049.4(ASPA):c.237-6T>C
NM_000071.2(CBS):c.*34G>A rs374464201
NM_000071.2(CBS):c.*383C>T rs73372352
NM_000071.2(CBS):c.-160C>T rs112271970
NM_000071.2(CBS):c.1040-6C>G rs767372401
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1074G>A (p.Val358=)
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1145+9C>T rs745997797
NM_000071.2(CBS):c.1146-7C>T rs376749931
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1209G>A (p.Thr403=) rs199967147
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1272C>T (p.Thr424=) rs141717913
NM_000071.2(CBS):c.1287C>T (p.Ile429=) rs770442169
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1338G>A (p.Ala446=) rs373962057
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1341C>T (p.Pro447=) rs371493662
NM_000071.2(CBS):c.1358+15C>G rs186497436
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1359-9G>A rs202137317
NM_000071.2(CBS):c.1380G>A (p.Thr460=) rs765134080
NM_000071.2(CBS):c.138C>T (p.Pro46=) rs532584017
NM_000071.2(CBS):c.1413G>C (p.Gly471=) rs777859460
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.147G>A (p.Pro49=) rs771719483
NM_000071.2(CBS):c.1485G>A (p.Thr495=) rs369903148
NM_000071.2(CBS):c.1494G>A (p.Arg498=) rs778800147
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1563C>T (p.Thr521=) rs773052594
NM_000071.2(CBS):c.1575T>C (p.Ser525=) rs150037641
NM_000071.2(CBS):c.1593C>T (p.Phe531=) rs768230991
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.1644G>C (p.Arg548=) rs143945898
NM_000071.2(CBS):c.183C>T (p.Ser61=) rs753906914
NM_000071.2(CBS):c.18C>T (p.Pro6=) rs777370660
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.351C>T (p.Ser117=) rs769149281
NM_000071.2(CBS):c.384G>A (p.Glu128=) rs374593242
NM_000071.2(CBS):c.429C>T (p.Ile143=) rs370167302
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.441C>T (p.Ser147=) rs367669819
NM_000071.2(CBS):c.456C>T (p.Ile152=) rs769438280
NM_000071.2(CBS):c.474G>A (p.Ala158=) rs189362155
NM_000071.2(CBS):c.501C>T (p.Ile167=) rs754246295
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.537C>T (p.Asp179=) rs769712423
NM_000071.2(CBS):c.609C>T (p.His203=) rs142313595
NM_000071.2(CBS):c.612G>C (p.Val204=) rs539670390
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.667-10_667-7del rs376011228
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.903C>T (p.Tyr301=) rs746575551
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.981C>T (p.Asn327=) rs777898632
NM_000071.3(CBS):c.1041T>A (p.Gly347=)
NM_000071.3(CBS):c.1223+8C>A
NM_000071.3(CBS):c.1251G>A (p.Leu417=)
NM_000071.3(CBS):c.1326C>G (p.Gly442=)
NM_000071.3(CBS):c.1356G>A (p.Ala452=)
NM_000071.3(CBS):c.1410C>T (p.Ala470=)
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.339C>T (p.Asn113=)
NM_000071.3(CBS):c.489T>C (p.Tyr163=)
NM_000071.3(CBS):c.525C>T (p.Ser175=)
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.687C>T (p.Pro229=)
NM_000071.3(CBS):c.69G>A (p.Ser23=)
NM_000071.3(CBS):c.717G>A (p.Glu239=)
NM_000071.3(CBS):c.737-10C>T
NM_000071.3(CBS):c.829-8C>G
NM_000071.3(CBS):c.93G>T (p.Gly31=)
NM_000071.3(CBS):c.993G>A (p.Ala331=)
NM_000170.2(GLDC):c.*257G>A rs111326356
NM_000170.2(GLDC):c.*557C>G rs73639311
NM_000170.2(GLDC):c.-186del rs140030144
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1278G>A (p.Gly426=) rs1554647023
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1483-6C>T rs1442788186
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1618A>C (p.Lys540Gln) rs140516872
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1752T>C (p.Pro584=) rs150647379
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1932C>T (p.Cys644=) rs111348076
NM_000170.2(GLDC):c.2024A>C (p.Asn675Thr)
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2126A>G (p.Asn709Ser) rs150943866
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2244G>A (p.Ser748=) rs372693840
NM_000170.2(GLDC):c.2283A>G (p.Gly761=) rs1554643744
NM_000170.2(GLDC):c.2304G>A (p.Gly768=) rs533775952
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2409C>T (p.Ala803=) rs1554643608
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.2(GLDC):c.2665+10T>C rs774684209
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2832G>A (p.Pro944=) rs764242927
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2964G>C (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.327C>T (p.Asp109=) rs1181706015
NM_000170.2(GLDC):c.40C>A (p.Arg14Ser) rs182760732
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.619C>G (p.Leu207Val) rs142181803
NM_000170.2(GLDC):c.642C>T (p.Asn214=) rs775546889
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
NM_000170.3(GLDC):c.*229C>G
NM_000170.3(GLDC):c.*236G>T
NM_000170.3(GLDC):c.103C>A (p.Arg35=)
NM_000170.3(GLDC):c.1080G>T (p.Val360=)
NM_000170.3(GLDC):c.1149A>G (p.Thr383=)
NM_000170.3(GLDC):c.114C>T (p.Ser38=)
NM_000170.3(GLDC):c.1155+9C>G
NM_000170.3(GLDC):c.1161C>A (p.Leu387=)
NM_000170.3(GLDC):c.1167G>C (p.Ala389=)
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
NM_000170.3(GLDC):c.1242C>T (p.Ala414=)
NM_000170.3(GLDC):c.1262-4G>A
NM_000170.3(GLDC):c.1332C>T (p.Cys444=)
NM_000170.3(GLDC):c.1359C>T (p.Ala453=)
NM_000170.3(GLDC):c.1401+9A>G
NM_000170.3(GLDC):c.147C>T (p.Ala49=)
NM_000170.3(GLDC):c.1554G>A (p.Pro518=)
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
NM_000170.3(GLDC):c.1851-9C>G
NM_000170.3(GLDC):c.1851C>T (p.Ser617=)
NM_000170.3(GLDC):c.1893C>T (p.Ala631=)
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)
NM_000170.3(GLDC):c.1926+6T>C
NM_000170.3(GLDC):c.1941G>A (p.Pro647=)
NM_000170.3(GLDC):c.1953T>C (p.His651=)
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=)
NM_000170.3(GLDC):c.2160T>C (p.His720=)
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=)
NM_000170.3(GLDC):c.2202+8C>A
NM_000170.3(GLDC):c.2229C>T (p.Phe743=)
NM_000170.3(GLDC):c.2271C>T (p.Cys757=)
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
NM_000170.3(GLDC):c.2352C>G (p.Pro784=)
NM_000170.3(GLDC):c.2406G>A (p.Ala802=)
NM_000170.3(GLDC):c.255+8C>T
NM_000170.3(GLDC):c.2565A>C (p.Ala855=)
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
NM_000170.3(GLDC):c.2601G>A (p.Thr867=)
NM_000170.3(GLDC):c.261T>C (p.Ile87=)
NM_000170.3(GLDC):c.2703G>C (p.Gly901=)
NM_000170.3(GLDC):c.2821A>C (p.Arg941=)
NM_000170.3(GLDC):c.2838+10C>T
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
NM_000170.3(GLDC):c.81G>A (p.Gly27=)
NM_000170.3(GLDC):c.831G>A (p.Thr277=)
NM_000170.3(GLDC):c.84G>T (p.Pro28=)
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
NM_000170.3(GLDC):c.972G>A (p.Leu324=)
NM_000277.3(PAH):c.*144A>G
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.169-42T>A rs281865459
NM_000277.3(PAH):c.352+11G>C rs371926082
NM_000277.3(PAH):c.399T>C (p.Asn133=)
NM_000277.3(PAH):c.424C>T (p.Leu142=)
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.442-4C>G
NM_000277.3(PAH):c.456T>C (p.Pro152=)
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.588C>T (p.Ser196=)
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928
NM_000277.3(PAH):c.681G>A (p.Leu227=)
NM_000277.3(PAH):c.706+17G>T rs62508592
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741
NM_000277.3(PAH):c.894C>T (p.Ser298=)
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.969+7C>T rs80324017
NM_000456.2(SUOX):c.-326A>T rs143315090
NM_000481.3(AMT):c.91-9C>T rs761235679
NM_000481.4(AMT):c.*130G>T rs143731179
NM_000481.4(AMT):c.*416C>T
NM_000481.4(AMT):c.1029G>A (p.Lys343=) rs1553638253
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.123C>T (p.Phe41=)
NM_000481.4(AMT):c.126C>T (p.His42=)
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463
NM_000481.4(AMT):c.174A>G (p.Pro58=)
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947
NM_000481.4(AMT):c.363C>T (p.Asn121=)
NM_000481.4(AMT):c.471+9C>T
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394
NM_000481.4(AMT):c.589G>C (p.Asp197His)
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.696+10G>T
NM_000481.4(AMT):c.789C>T (p.Ser263=) rs753177107
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059
NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=)
NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=)
NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser)
NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=)
NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr)
NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=)
NM_001032386.2(SUOX):c.-11+1604T>G rs534066397
NM_001032386.2(SUOX):c.-11+1613C>T rs139170103
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp)
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761
NM_001032386.2(SUOX):c.50+9G>A rs368327991
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp)
NM_001032386.2(SUOX):c.596C>T (p.Pro199Leu)
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
NM_001289910.1(IDH2):c.204G>A (p.Glu68=) rs536071174
NM_001289910.1(IDH2):c.517G>A (p.Asp173Asn) rs142816010
NM_001354304.2(PAH):c.-95-129G>A rs886048892
NM_001354304.2(PAH):c.-95-360del rs113191080
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673
NM_001354304.2(PAH):c.-95-52C>T rs62517177
NM_001358530.2(MOCS1):c.*120C>T
NM_001358530.2(MOCS1):c.*1348_*1351dup rs397953334
NM_001358530.2(MOCS1):c.*1389dup rs144859841
NM_001358530.2(MOCS1):c.*1424C>G rs151159237
NM_001358530.2(MOCS1):c.*1629G>A
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[1] rs112059918
NM_001358530.2(MOCS1):c.*1909A>G rs73732316
NM_001358530.2(MOCS1):c.*1911C>A
NM_001358530.2(MOCS1):c.*327G>A rs112129067
NM_001358530.2(MOCS1):c.*523_*527TCCTG[4] rs138907488
NM_001358530.2(MOCS1):c.*826A>C
NM_001358530.2(MOCS1):c.*908_*911AATC[3] rs3839624
NM_001358530.2(MOCS1):c.*990T>C rs192141515
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596
NM_001609.3(ACADSB):c.*1445A>T rs182952282
NM_001609.3(ACADSB):c.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*3907C>G rs185346880
NM_001609.3(ACADSB):c.*78C>T rs117078411
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-123G>A rs72839755
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.4(ACADSB):c.*1326A>G
NM_001609.4(ACADSB):c.*2086G>A
NM_001609.4(ACADSB):c.*2224A>G
NM_001609.4(ACADSB):c.*3517A>G
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=)
NM_001609.4(ACADSB):c.1128+20_1128+26dup
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile)
NM_002168.4(IDH2):c.120C>T (p.Ala40=)
NM_002168.4(IDH2):c.141G>A (p.Ala47=)
NM_002168.4(IDH2):c.276T>C (p.Thr92=)
NM_002168.4(IDH2):c.535-6C>T
NM_002203.4(ITGA2):c.*1252G>A rs1042324
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*2505_*2508CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2574C>G rs75427194
NM_002203.4(ITGA2):c.*2939C>T rs7700416
NM_002203.4(ITGA2):c.*3164G>A rs7737412
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*3918G>C rs10471829
NM_002203.4(ITGA2):c.*4045_*4047AGT[1] rs71727762
NM_002203.4(ITGA2):c.*4098C>G rs10471830
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_003748.4(ALDH4A1):c.*35C>T rs2230710
NM_003748.4(ALDH4A1):c.*903C>T rs148846466
NM_003748.4(ALDH4A1):c.-4C>A rs9426797
NM_003748.4(ALDH4A1):c.-7A>G rs9426679
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=)
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.603+14G>A
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=)
NM_004483.4(GCSH):c.293-4T>C rs1555529308
NM_004483.5(GCSH):c.72G>T (p.Ala24=)
NM_004483.5(GCSH):c.75C>T (p.Pro25=) rs958918692
NM_004483.5(GCSH):c.84G>A (p.Pro28=) rs775381594
NM_004531.5(MOCS2):c.*1913G>A
NM_004531.5(MOCS2):c.*2357T>C
NM_004531.5(MOCS2):c.*2900A>G
NM_004531.5(MOCS2):c.*413del rs3839261
NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) rs2233213
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) rs2233216
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) rs145180240
NM_005881.4(BCKDK):c.372C>T (p.His124=)
NM_005881.4(BCKDK):c.588G>A (p.Ser196=)
NM_005881.4(BCKDK):c.717-5C>T
NM_005881.4(BCKDK):c.721C>T (p.Leu241=) rs374121679
NM_005881.4(BCKDK):c.936-10A>G
NM_016335.5(PRODH):c.1173C>T (p.Ser391=)
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016335.5(PRODH):c.1463A>G (p.Asn488Ser)
NM_016335.5(PRODH):c.21G>A (p.Leu7=) rs539772713
NM_016335.5(PRODH):c.417C>T (p.Ser139=)
NM_016335.5(PRODH):c.42T>C (p.Ile14=) rs761010757
NM_020806.4(GPHN):c.1173T>C (p.Asp391=) rs147709250
NM_020806.4(GPHN):c.1191T>C (p.Asn397=)
NM_020806.4(GPHN):c.1414-10G>C
NM_020806.4(GPHN):c.144-10C>T rs199759192
NM_020806.4(GPHN):c.165A>G (p.Ala55=) rs753182110
NM_020806.4(GPHN):c.1911-6T>C rs369800026
NM_020806.4(GPHN):c.1911-7C>T
NM_020806.4(GPHN):c.1944T>C (p.Asp648=)
NM_020806.4(GPHN):c.1971A>C (p.Leu657=) rs150799851
NM_020806.4(GPHN):c.2124G>A (p.Arg708=) rs761412853
NM_020806.4(GPHN):c.2192G>C (p.Ser731Thr) rs142608987
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.327A>G (p.Pro109=) rs1555430196
NM_020806.4(GPHN):c.369A>G (p.Thr123=)
NM_020806.4(GPHN):c.633A>G (p.Gln211=) rs151322023
NM_020806.4(GPHN):c.651A>G (p.Glu217=)
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) rs201806251
NM_024884.3(L2HGDH):c.600G>A (p.Leu200=)
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=)
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=)
NM_032316.3(NICN1):c.*2307G>C rs544461335
NM_152783.5(D2HGDH):c.*40C>T
NM_152783.5(D2HGDH):c.*410G>A rs568821876
NM_152783.5(D2HGDH):c.*474C>T rs570372209
NM_152783.5(D2HGDH):c.-92-4C>G rs146482048
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=)
NM_152783.5(D2HGDH):c.351-8C>T
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_152783.5(D2HGDH):c.963C>T (p.Val321=)

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