ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 515
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_24140670)_(24194786_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)del
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NC_000002.12:g.(?_71109950)_(71130239_?)del
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136019910_136021257del
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182810187)_(182810343_?)del
NC_000003.11:g.(?_182817140)_(182817228_?)del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NC_000003.12:g.(?_15601831)_(15601914_?)del
NC_000003.12:g.(?_183052139)_(183052260_?)del
NC_000003.12:g.(?_183070989)_(183072497_?)del
NC_000003.12:g.(?_183092389)_(183092565_?)del
NC_000004.12:g.(?_145639120)_(145642505_?)del
NC_000005.10:g.(?_71587406)_(71656880_?)del
NC_000005.10:g.(?_71626620)_(71649273_?)del
NC_000005.10:g.71632121del
NC_000005.9:g.(?_70892097)_(70892201_?)del
NC_000005.9:g.(?_70936810)_(70936922_?)del
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.11:g.(?_100111821)_(100112081_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100527655)_(100530186_?)del
NC_000013.11:g.(?_100527665)_(100530447_?)del
NC_000015.10:g.(?_40418110)_(40418283_?)del
NC_000015.9:g.(?_40698000)_(40700209_?)del
NC_000015.9:g.(?_40699827)_(40710472_?)del
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.89178499del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36938822)_(36939004_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153647872)_(153650075_?)del
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053
NM_000019.4(ACAT1):c.1163+1G>A
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
NM_000019.4(ACAT1):c.749del (p.Val250fs)
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000116.5(TAFAZZIN):c.109+5G>A
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala99_Ala100insTer)
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
NM_000191.3(HMGCL):c.374_375del (p.Val125fs)
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1560+1G>T rs200019422
NM_000255.4(MMUT):c.1677-1G>A rs754369323
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) rs1561952122
NM_000255.4(MMUT):c.2125-3C>G rs1581815342
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.622del (p.Val208fs) rs1581834906
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.145del (p.Arg49fs)
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) rs999936193
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
NM_000282.4(PCCA):c.506dup (p.His169fs)
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) rs1576397633
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1398+1G>T rs794727092
NM_000532.5(PCCB):c.1399-2_1399-1del
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) rs1576361811
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.371del (p.Gln124fs)
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.654+462A>G rs1576327011
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
NM_001243279.3(ACSF3):c.1623_1624insCAGAT (p.Ala542fs)
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) rs1597898076
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
NM_001258392.3(CLPB):c.646+7310G>A
NM_001258392.3(CLPB):c.646+7323G>T rs374473067
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs796051977
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-18del
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.282del (p.Ile95fs)
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) rs201877440
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.3(AUH):c.197del (p.Gly66fs)
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs)
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.243G>A (p.Trp81Ter) rs540375168
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174
NM_002225.5(IVD):c.456+2T>C rs398123683
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
NM_002225.5(IVD):c.870del (p.Pro291fs)
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_014362.4(HIBCH):c.609del (p.Gly204fs) rs776592661
NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter) rs1591505809
NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) rs746960051
NM_014384.3(ACAD8):c.1092+1G>C
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.122del (p.Leu41fs)
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.429+1G>C
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_015506.3(MMACHC):c.81+1G>A
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) rs1573878695
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)
NM_020166.5(MCCC1):c.1210dup (p.His404fs) rs1577276144
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-2A>G
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs)
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter)
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.1937del (p.Gln646fs)
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter)
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs)
NM_020166.5(MCCC1):c.556del (p.Gln186fs)
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) rs779412317
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs)
NM_020166.5(MCCC1):c.704del (p.Ala235fs) rs1577328234
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.762-2_762-1del
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.1103del (p.Gly368fs)
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter)
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969
NM_022132.5(MCCC2):c.512-1G>A
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.557del (p.Pro186fs)
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
NM_022132.5(MCCC2):c.581del (p.Thr194fs) rs1190325113
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs)
NM_022132.5(MCCC2):c.823del (p.His275fs)
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) rs1580319814
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs)
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370
NM_052845.4(MMAB):c.643_644insTT (p.Arg215fs)
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618
NM_145261.4(DNAJC19):c.130-1G>C rs137854888
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.139_140del (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
NM_172250.3(MMAA):c.733+1G>A rs779939886
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) rs757548934
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)

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