ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 493
Download table as spreadsheet
HGVS dbSNP
NM_000019.3(ACAT1):c.*214G>C rs145690535
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*291A>C rs771132416
NM_000019.3(ACAT1):c.*344T>C rs776705661
NM_000019.3(ACAT1):c.*393A>G rs886047601
NM_000019.3(ACAT1):c.*464A>G rs886047602
NM_000019.3(ACAT1):c.*467_*470dupATCA rs537463051
NM_000019.3(ACAT1):c.*553T>A rs183999318
NM_000019.3(ACAT1):c.*591A>T rs886047604
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.3(ACAT1):c.*753C>T rs186239800
NM_000019.3(ACAT1):c.-70T>A rs566741161
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000116.5(TAZ):c.*387C>T rs1057515819
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000191.3(HMGCL):c.*104G>A rs552915017
NM_000191.3(HMGCL):c.*194C>G rs192071003
NM_000191.3(HMGCL):c.*289G>T rs369514739
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.*414G>A rs886046310
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000282.4(PCCA):c.*115C>T rs41281122
NM_000282.4(PCCA):c.*116G>A rs886049929
NM_000282.4(PCCA):c.*159T>G rs113356477
NM_000282.4(PCCA):c.*190C>G rs41281124
NM_000282.4(PCCA):c.*190C>T rs41281124
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299
NM_000411.8(HLCS):c.*1084C>T rs530869762
NM_000411.8(HLCS):c.*1089G>A rs146991267
NM_000411.8(HLCS):c.*1097G>A rs886057070
NM_000411.8(HLCS):c.*1273T>A rs565500474
NM_000411.8(HLCS):c.*1324T>C rs141644229
NM_000411.8(HLCS):c.*1581T>C rs886057069
NM_000411.8(HLCS):c.*1594A>G rs776064678
NM_000411.8(HLCS):c.*1614dup rs886057068
NM_000411.8(HLCS):c.*1725A>G rs73398120
NM_000411.8(HLCS):c.*1744G>A rs117270429
NM_000411.8(HLCS):c.*1756C>T rs748180401
NM_000411.8(HLCS):c.*1761_*1762del rs886057067
NM_000411.8(HLCS):c.*1827C>A rs768653798
NM_000411.8(HLCS):c.*1852G>T rs551457805
NM_000411.8(HLCS):c.*1856T>C rs151042283
NM_000411.8(HLCS):c.*1997G>A rs886057066
NM_000411.8(HLCS):c.*2023G>A rs886057065
NM_000411.8(HLCS):c.*2163A>G rs139776215
NM_000411.8(HLCS):c.*2243C>T rs554230015
NM_000411.8(HLCS):c.*2267G>T rs886057064
NM_000411.8(HLCS):c.*2285G>A rs886057063
NM_000411.8(HLCS):c.*2434G>T rs886057062
NM_000411.8(HLCS):c.*2541C>T rs184935954
NM_000411.8(HLCS):c.*2545C>A rs180866987
NM_000411.8(HLCS):c.*2624G>A rs73210780
NM_000411.8(HLCS):c.*270dup rs886057074
NM_000411.8(HLCS):c.*2814C>T rs146199781
NM_000411.8(HLCS):c.*2945C>T rs71332549
NM_000411.8(HLCS):c.*2952_*2953CT[1] rs886057061
NM_000411.8(HLCS):c.*3159_*3162del rs535525635
NM_000411.8(HLCS):c.*3161G>T rs886057060
NM_000411.8(HLCS):c.*3209C>T rs886057059
NM_000411.8(HLCS):c.*3226del rs35955622
NM_000411.8(HLCS):c.*3226dup rs35955622
NM_000411.8(HLCS):c.*3247A>G rs114061673
NM_000411.8(HLCS):c.*334A>G rs886057073
NM_000411.8(HLCS):c.*490C>T rs376741921
NM_000411.8(HLCS):c.*590A>G rs148195019
NM_000411.8(HLCS):c.*779A>T rs886057072
NM_000411.8(HLCS):c.*985C>A rs886057071
NM_000411.8(HLCS):c.-173C>T rs541806392
NM_000411.8(HLCS):c.-208G>A rs77067023
NM_000411.8(HLCS):c.-254C>T rs149104163
NM_000411.8(HLCS):c.-257-10T>A rs181989786
NM_000411.8(HLCS):c.-294A>C rs751729789
NM_000411.8(HLCS):c.-373A>T rs191115811
NM_000411.8(HLCS):c.-382A>G rs886057080
NM_000411.8(HLCS):c.-393+7C>T rs886057081
NM_000411.8(HLCS):c.1180-12T>C rs367728041
NM_000411.8(HLCS):c.1254C>T (p.Leu418=) rs138209330
NM_000411.8(HLCS):c.1416C>A (p.Ala472=) rs759178651
NM_000411.8(HLCS):c.1502G>A (p.Arg501Gln) rs886057076
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1536G>A (p.Val512=) rs886057075
NM_000411.8(HLCS):c.1680+1G>A rs1175936807
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1911C>T (p.Ile637=) rs150263699
NM_000411.8(HLCS):c.1977C>T (p.Val659=) rs759416272
NM_000411.8(HLCS):c.1991A>G (p.Tyr664Cys) rs776535574
NM_000411.8(HLCS):c.2174G>A (p.Arg725Gln) rs147474255
NM_000411.8(HLCS):c.282C>A (p.Gly94=) rs886057077
NM_000411.8(HLCS):c.399C>T (p.Tyr133=) rs779907293
NM_000411.8(HLCS):c.400G>A (p.Asp134Asn) rs148426470
NM_000411.8(HLCS):c.424G>A (p.Val142Ile) rs149291867
NM_000411.8(HLCS):c.477A>G (p.Gly159=) rs767988985
NM_000411.8(HLCS):c.48T>G (p.Ile16Met) rs886057079
NM_000411.8(HLCS):c.52+9C>A rs886057078
NM_000411.8(HLCS):c.53-25TC[4] rs146532042
NM_000411.8(HLCS):c.53-9A>G rs376397597
NM_000411.8(HLCS):c.59A>G (p.His20Arg) rs577182758
NM_000411.8(HLCS):c.632C>T (p.Thr211Met) rs142524025
NM_000411.8(HLCS):c.890G>A (p.Arg297Gln) rs146030669
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.*44C>T rs201452852
NM_000532.5(PCCB):c.*91C>A rs115533065
NM_000532.5(PCCB):c.-35G>A rs886058016
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) rs182412270
NM_000532.5(PCCB):c.1199-8A>G rs886058019
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) rs369612150
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001017989.3(OPA3):c.143-16962_143-16958del rs565521231
NM_001017989.3(OPA3):c.143-17156G>A rs528812143
NM_001017989.3(OPA3):c.143-17285G>T rs886054504
NM_001017989.3(OPA3):c.143-17370G>A rs181576269
NM_001017989.3(OPA3):c.143-17384T>C rs534603782
NM_001017989.3(OPA3):c.143-17488G>C rs773109015
NM_001017989.3(OPA3):c.143-17597C>T rs886054505
NM_001017989.3(OPA3):c.143-17622_143-17621insG rs886054506
NM_001017989.3(OPA3):c.143-17769A>G rs182293743
NM_001017989.3(OPA3):c.143-17780G>A rs886054507
NM_001017989.3(OPA3):c.143-17933G>A rs780617440
NM_001017989.3(OPA3):c.143-17986A>G rs576104602
NM_001017989.3(OPA3):c.143-18170C>T rs886054508
NM_001017989.3(OPA3):c.143-18185C>T rs886054509
NM_001017989.3(OPA3):c.143-18284G>C rs886054510
NM_001017989.3(OPA3):c.143-18284G>T rs886054510
NM_001017989.3(OPA3):c.143-18319C>T rs375835737
NM_001017989.3(OPA3):c.143-18461C>T rs560019290
NM_001017989.3(OPA3):c.143-18562C>T rs886054511
NM_001017989.3(OPA3):c.143-18701G>A rs549141863
NM_001017989.3(OPA3):c.143-18800A>G rs886054512
NM_001017989.3(OPA3):c.143-19089C>G rs886054513
NM_001017989.3(OPA3):c.143-19104C>T rs146646433
NM_001017989.3(OPA3):c.143-19139_143-19137del rs886054514
NM_001017989.3(OPA3):c.143-19196_143-19193del rs886054515
NM_001017989.3(OPA3):c.143-19205T>A rs886054516
NM_001017989.3(OPA3):c.143-19346del rs886054518
NM_001017989.3(OPA3):c.143-19362ATAA[6] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[8] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[9] rs58537694
NM_001017989.3(OPA3):c.143-19472G>A rs886054519
NM_001017989.3(OPA3):c.143-19473C>T rs886054520
NM_001017989.3(OPA3):c.143-19537G>A rs886054521
NM_001017989.3(OPA3):c.143-19594G>T rs886054522
NM_001017989.3(OPA3):c.143-19619C>T rs538388889
NM_001017989.3(OPA3):c.143-19639C>T rs886054523
NM_001017989.3(OPA3):c.143-20032del rs879119658
NM_001017989.3(OPA3):c.143-20043dup rs879119658
NM_001017989.3(OPA3):c.143-20167C>T rs752997579
NM_001017989.3(OPA3):c.143-20174G>A rs187028696
NM_001017989.3(OPA3):c.143-20213C>T rs886054525
NM_001017989.3(OPA3):c.143-20303G>A rs555830952
NM_001017989.3(OPA3):c.143-20477C>T rs576070088
NM_001017989.3(OPA3):c.143-20562C>G rs749084024
NM_001017989.3(OPA3):c.143-20698G>A rs545764728
NM_001017989.3(OPA3):c.143-20780C>T rs770317628
NM_001017989.3(OPA3):c.143-21162G>A rs190488484
NM_001017989.3(OPA3):c.143-21344C>T rs781539538
NM_001017989.3(OPA3):c.143-21356G>T rs886054526
NM_001017989.3(OPA3):c.143-21468G>T rs886054527
NM_001017989.3(OPA3):c.143-21513G>A rs886054528
NM_001017989.3(OPA3):c.143-21568C>T rs11671670
NM_001017989.3(OPA3):c.143-21969T>C rs886054529
NM_001017989.3(OPA3):c.143-22195T>G rs769185702
NM_001017989.3(OPA3):c.143-22259A>G rs886054530
NM_001017989.3(OPA3):c.143-22580A>G rs886054531
NM_001017989.3(OPA3):c.143-22804A>C rs886054532
NM_001017989.3(OPA3):c.143-22820G>A rs187216413
NM_001017989.3(OPA3):c.143-22845C>T rs539298843
NM_001017989.3(OPA3):c.143-22967C>G rs557691359
NM_001017989.3(OPA3):c.143-22982A>G rs886054533
NM_001017989.3(OPA3):c.143-23087dup rs377547137
NM_001017989.3(OPA3):c.143-23136G>T rs886054535
NM_001017989.3(OPA3):c.143-23237A>T rs886054536
NM_001017989.3(OPA3):c.143-23345C>G rs143735864
NM_001017989.3(OPA3):c.143-23381C>T rs560749495
NM_001017989.3(OPA3):c.143-23409C>T rs886054537
NM_001017989.3(OPA3):c.143-23513G>T rs886054538
NM_001017989.3(OPA3):c.143-23638A>G rs868102539
NM_001017989.3(OPA3):c.143-23732_143-23731del rs571672143
NM_001017989.3(OPA3):c.143-23736A>G rs886054539
NM_001017989.3(OPA3):c.143-23756C>T rs886054540
NM_001017989.3(OPA3):c.143-24008_143-24006del rs886054541
NM_001017989.3(OPA3):c.143-24154C>T rs759536853
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001127692.2(PCCA):c.-60C>T rs778039561
NM_001166059.1(HMGCL):c.-41G>C rs886046315
NM_001178014.1(PCCB):c.-46A>T rs751837162
NM_001293273.1(MCCC1):c.-193C>T rs886058210
NM_001293273.1(MCCC1):c.-194C>A rs543130921
NM_001293273.1(MCCC1):c.-224C>T rs529095789
NM_001330174.2(ACADSB):c.922+21del rs11307362
NM_001370658.1(BTD):c.*211G>A rs78601074
NM_001370658.1(BTD):c.*57T>A rs886058118
NM_001370658.1(BTD):c.-105C>T rs184480128
NM_001370658.1(BTD):c.-148C>T rs774964227
NM_001370658.1(BTD):c.-65G>T rs199516128
NM_001370658.1(BTD):c.-87G>T rs755119589
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212
NM_001609.3(ACADSB):c.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1195C>A rs886046787
NM_001609.3(ACADSB):c.*1202G>A rs181209320
NM_001609.3(ACADSB):c.*1337A>G rs190353878
NM_001609.3(ACADSB):c.*1445A>T rs182952282
NM_001609.3(ACADSB):c.*1508C>T rs886046788
NM_001609.3(ACADSB):c.*1543G>T rs886046789
NM_001609.3(ACADSB):c.*1682T>C rs886046790
NM_001609.3(ACADSB):c.*1754A>G rs886046791
NM_001609.3(ACADSB):c.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1840T>G rs886046792
NM_001609.3(ACADSB):c.*1907C>T rs886046793
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*1942C>T rs886046794
NM_001609.3(ACADSB):c.*1972C>A rs187582823
NM_001609.3(ACADSB):c.*2060G>A rs886046795
NM_001609.3(ACADSB):c.*206A>C rs138299400
NM_001609.3(ACADSB):c.*2085C>T rs766980366
NM_001609.3(ACADSB):c.*2174A>G rs577027224
NM_001609.3(ACADSB):c.*2224A>C rs192771453
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*2329A>G rs543916865
NM_001609.3(ACADSB):c.*2339G>A rs886046796
NM_001609.3(ACADSB):c.*2529G>A rs182831006
NM_001609.3(ACADSB):c.*2548G>T rs545467732
NM_001609.3(ACADSB):c.*2686G>C rs886046797
NM_001609.3(ACADSB):c.*277A>T rs149609453
NM_001609.3(ACADSB):c.*2803T>C rs187253795
NM_001609.3(ACADSB):c.*285T>C rs552366364
NM_001609.3(ACADSB):c.*2922G>A rs184574685
NM_001609.3(ACADSB):c.*2950A>G rs886046798
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*323G>A rs886046785
NM_001609.3(ACADSB):c.*3299C>G rs116019965
NM_001609.3(ACADSB):c.*3340G>C rs886046799
NM_001609.3(ACADSB):c.*3390C>A rs751677400
NM_001609.3(ACADSB):c.*3431C>G rs886046800
NM_001609.3(ACADSB):c.*3470T>C rs547577402
NM_001609.3(ACADSB):c.*3483T>G rs886046801
NM_001609.3(ACADSB):c.*358T>C rs184796725
NM_001609.3(ACADSB):c.*3597G>A rs755235760
NM_001609.3(ACADSB):c.*3619T>C rs886046802
NM_001609.3(ACADSB):c.*3907C>G rs185346880
NM_001609.3(ACADSB):c.*3918G>A rs886046803
NM_001609.3(ACADSB):c.*3941C>A rs886046804
NM_001609.3(ACADSB):c.*3993T>A rs886046805
NM_001609.3(ACADSB):c.*4177G>A rs886046806
NM_001609.3(ACADSB):c.*473G>C rs189484621
NM_001609.3(ACADSB):c.*57G>A rs886046783
NM_001609.3(ACADSB):c.*59G>A rs886046784
NM_001609.3(ACADSB):c.*6A>G rs530087761
NM_001609.3(ACADSB):c.*78C>T rs117078411
NM_001609.3(ACADSB):c.*973A>G rs886046786
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-22A>G rs563472823
NM_001609.3(ACADSB):c.-39G>A rs886046776
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.3(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.3(ACADSB):c.1128+3A>G rs760423996
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) rs770827167
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1228+8G>C rs202191462
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.3(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.3(ACADSB):c.681+14C>T rs748185849
NM_001609.3(ACADSB):c.682-7T>C rs886046779
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) rs751722805
NM_001698.2(AUH):c.*218_*219del rs1057515675
NM_001698.2(AUH):c.*259_*262del rs377176126
NM_001698.2(AUH):c.*29G>A rs200499826
NM_001698.2(AUH):c.*432C>T rs746233646
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.381A>G (p.Ile127Met) rs146227896
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2070C>T rs187887699
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_014384.2(ACAD8):c.*168G>A rs144390733
NM_014384.2(ACAD8):c.*238G>C rs886048026
NM_014384.2(ACAD8):c.*306C>T rs886048027
NM_014384.2(ACAD8):c.*351C>G rs561907589
NM_014384.2(ACAD8):c.*441C>G rs886048028
NM_014384.2(ACAD8):c.*494A>G rs148808998
NM_014384.2(ACAD8):c.*608G>A rs143912522
NM_014384.2(ACAD8):c.*652C>G rs139716145
NM_014384.2(ACAD8):c.*696A>G rs886048029
NM_014384.2(ACAD8):c.*705T>G rs534413850
NM_014384.2(ACAD8):c.*874C>G rs756666725
NM_014384.2(ACAD8):c.1092C>T (p.Ala364=) rs146813391
NM_014384.2(ACAD8):c.110-9T>C rs371550147
NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) rs146145710
NM_014384.2(ACAD8):c.211-4A>G rs517424
NM_014384.2(ACAD8):c.275A>G (p.Gln92Arg) rs886048022
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) rs751633406
NM_014384.2(ACAD8):c.381-4T>A rs886048023
NM_014384.2(ACAD8):c.432A>G (p.Lys144=) rs886048024
NM_014384.2(ACAD8):c.525C>T (p.Ser175=) rs142343253
NM_014384.2(ACAD8):c.558T>C (p.Asn186=) rs886048025
NM_014384.2(ACAD8):c.567+12C>T rs375812492
NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) rs746960051
NM_014384.2(ACAD8):c.841+15G>A rs770612690
NM_014384.2(ACAD8):c.841+9C>T rs777635296
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_014384.2(ACAD8):c.99C>T (p.Ser33=) rs886048021
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.*45A>T rs186406584
NM_020166.5(MCCC1):c.-23C>T rs374636986
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*1144A>G rs886060747
NM_022132.5(MCCC2):c.*1354C>T rs538509005
NM_022132.5(MCCC2):c.*1381A>C rs115650149
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*260T>A rs886060739
NM_022132.5(MCCC2):c.*368T>C rs769233664
NM_022132.5(MCCC2):c.*526C>T rs181669670
NM_022132.5(MCCC2):c.*565C>A rs565365607
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.*659C>T rs886060740
NM_022132.5(MCCC2):c.*699T>C rs886060741
NM_022132.5(MCCC2):c.*719del rs886060742
NM_022132.5(MCCC2):c.*725C>T rs370508668
NM_022132.5(MCCC2):c.*819G>A rs565662004
NM_022132.5(MCCC2):c.*839T>C rs886060743
NM_022132.5(MCCC2):c.*856C>T rs886060744
NM_022132.5(MCCC2):c.*878T>G rs886060745
NM_022132.5(MCCC2):c.*940C>G rs886060746
NM_022132.5(MCCC2):c.-38G>A rs186132078
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) rs1561848250
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057
NM_145261.4(DNAJC19):c.*190_*193ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*212C>T rs190670376
NM_145261.4(DNAJC19):c.*325T>C rs886058202
NM_145261.4(DNAJC19):c.*365T>C rs143458718
NM_145261.4(DNAJC19):c.*441G>A rs1805635
NM_145261.4(DNAJC19):c.*488G>C rs576646391
NM_145261.4(DNAJC19):c.*516A>G rs762130203
NM_145261.4(DNAJC19):c.*528_*529GT[9] rs148074891
NM_145261.4(DNAJC19):c.*645A>C rs146964003
NM_145261.4(DNAJC19):c.*692T>C rs555888288
NM_145261.4(DNAJC19):c.-121C>T rs886058205
NM_145261.4(DNAJC19):c.-29G>T rs181271620
NM_145261.4(DNAJC19):c.118C>T (p.Leu40=) rs886058204
NM_145261.4(DNAJC19):c.129+15A>C rs201697391
NM_145261.4(DNAJC19):c.281-12T>C rs141982712
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670

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