ClinVar Miner

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

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 499
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001609.4(ACADSB):c.1128+1G>A rs1564754571 0.00005
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_001698.3(AUH):c.656-2_656-1del rs757748207 0.00004
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp) rs769261274 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336 0.00004
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) rs398123681 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000282.4(PCCA):c.232-1G>A rs794727620 0.00002
NM_000282.4(PCCA):c.689G>A (p.Arg230His) rs747943045 0.00002
NM_001243279.3(ACSF3):c.978-1G>A rs756599931 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 0.00002
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg) rs371033488 0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln) rs121908422 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg) rs979584886 0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726 0.00002
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.120+1G>C rs779908220 0.00001
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) rs1420321267 0.00001
NM_000191.3(HMGCL):c.144+1G>A rs1638698732 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.183+1G>A rs757540625 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.177C>G (p.His59Gln) rs757134877 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp) rs778242891 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001243279.3(ACSF3):c.666+1G>A rs1336382616 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.249+1G>T rs373249212 0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu) rs372416959 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr) rs770456976 0.00001
NM_001698.3(AUH):c.656-2del rs780964098 0.00001
NM_002225.5(IVD):c.286+2T>C rs748026507 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.891+1G>A rs915412371 0.00001
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr) rs767041100 0.00001
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe) rs770663870 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln) rs752153225 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) rs1553162901 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.1681+2T>C rs1333994006 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.89+1G>C rs771730236 0.00001
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg) rs765438239 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg) rs769558016 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 0.00001
NM_022132.5(MCCC2):c.383+2del rs1745349463 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00001
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe) rs531567604 0.00001
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980 0.00001
NC_000001.10:g.(?_24137216)_(24140838_?)del
NC_000003.11:g.(?_135980784)_(135980917_?)del
NC_000003.11:g.(?_136002659)_(136002809_?)del
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.9:g.(?_70895466)_(70895607_?)del
NC_000009.11:g.(?_94118145)_(94118457_?)del
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000011.9:g.(?_72083996)_(72087051_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953704)_(100962172_?)dup
NC_000013.10:g.(?_100982805)_(101020838_?)dup
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.9:g.(?_40702817)_(40708571_?)del
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89178490)_(89199680_?)dup
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000021.8:g.(?_38126547)_(38139606_?)del
NM_000019.4(ACAT1):c.1005+1G>A rs2134780623
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile) rs377295639
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg) rs2134797745
NM_000019.4(ACAT1):c.120+1G>A
NM_000019.4(ACAT1):c.120+1G>T rs779908220
NM_000019.4(ACAT1):c.121-2A>G rs2135334384
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.334+2T>A
NM_000019.4(ACAT1):c.335-2A>G
NM_000019.4(ACAT1):c.579+2T>A rs112950994
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) rs1437567292
NM_000019.4(ACAT1):c.73-1G>A
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.940+2T>C rs963023006
NM_000019.4(ACAT1):c.940+2dup rs2134773243
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
NM_000191.3(HMGCL):c.144+2T>C rs1001955490
NM_000191.3(HMGCL):c.145-1G>C
NM_000191.3(HMGCL):c.252+1G>A rs775218067
NM_000191.3(HMGCL):c.252+1G>C
NM_000191.3(HMGCL):c.348+1G>A rs1322650779
NM_000191.3(HMGCL):c.48_60+289del
NM_000191.3(HMGCL):c.497+1G>A
NM_000191.3(HMGCL):c.561+1G>T
NM_000191.3(HMGCL):c.562-1G>A
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.60+1G>C
NM_000191.3(HMGCL):c.61-1G>C rs1638701269
NM_000191.3(HMGCL):c.750+2T>C
NM_000282.4(PCCA):c.106-1G>A rs769819121
NM_000282.4(PCCA):c.1065+1G>A
NM_000282.4(PCCA):c.1065+1G>C rs2063433750
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu) rs1301904623
NM_000282.4(PCCA):c.1209+2T>G
NM_000282.4(PCCA):c.1210-1G>A
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
NM_000282.4(PCCA):c.1285-2A>G
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
NM_000282.4(PCCA):c.1430-1G>A rs2152733805
NM_000282.4(PCCA):c.1430-2A>T
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T rs1555298451
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1900-1G>A rs2152998142
NM_000282.4(PCCA):c.2040+2T>G
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.232-2A>G rs747968405
NM_000282.4(PCCA):c.232-2A>T rs747968405
NM_000282.4(PCCA):c.300+1G>A
NM_000282.4(PCCA):c.300+2T>G
NM_000282.4(PCCA):c.414+1G>T rs2152383049
NM_000282.4(PCCA):c.449_468+443del rs2152387124
NM_000282.4(PCCA):c.468+1G>C
NM_000282.4(PCCA):c.468+2T>C
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.637+1G>A rs1265911468
NM_000282.4(PCCA):c.637+2T>A rs2152522245
NM_000282.4(PCCA):c.638-1G>A
NM_000282.4(PCCA):c.638-2A>G
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.716+1G>C
NM_000282.4(PCCA):c.717-2A>G rs2062611307
NM_000282.4(PCCA):c.819+1G>A
NM_000282.4(PCCA):c.820-1G>A rs2063103516
NM_000282.4(PCCA):c.914+1G>A
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1091-1G>A rs2108237784
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg) rs753037539
NM_000532.5(PCCB):c.1198+1G>A rs1935333494
NM_000532.5(PCCB):c.1288_1299+5del rs1250541852
NM_000532.5(PCCB):c.1300-1G>A
NM_000532.5(PCCB):c.1300-1G>C
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
NM_000532.5(PCCB):c.1395_1398+8del
NM_000532.5(PCCB):c.1398+2del rs2108239135
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
NM_000532.5(PCCB):c.183+1G>A rs398123460
NM_000532.5(PCCB):c.183+1G>C
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.303+1G>T rs1941662983
NM_000532.5(PCCB):c.304-1G>A
NM_000532.5(PCCB):c.304-2A>G
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser) rs1941676220
NM_000532.5(PCCB):c.372+1G>A
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.373-1G>C rs2108144374
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly) rs879253815
NM_000532.5(PCCB):c.543+1G>A rs2108146835
NM_000532.5(PCCB):c.543+1G>C
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg) rs2108182082
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.77_183+30delinsCC
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg) rs780837200
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln) rs150487794
NM_001243279.3(ACSF3):c.1126+1G>A rs916461556
NM_001243279.3(ACSF3):c.1127-2A>T
NM_001243279.3(ACSF3):c.1231_1239+9del
NM_001243279.3(ACSF3):c.1240-1G>C
NM_001243279.3(ACSF3):c.1366+1G>A
NM_001243279.3(ACSF3):c.1367-2_1367-1del
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs) rs1912702795
NM_001243279.3(ACSF3):c.1501+1G>A
NM_001243279.3(ACSF3):c.1501+1G>T
NM_001243279.3(ACSF3):c.1502-1G>C
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs) rs1914445437
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.666+1G>T
NM_001243279.3(ACSF3):c.667-1G>T
NM_001243279.3(ACSF3):c.667-2A>G
NM_001243279.3(ACSF3):c.822+1G>A rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C rs1975502704
NM_001243279.3(ACSF3):c.823-1G>A
NM_001243279.3(ACSF3):c.977+1G>A
NM_001243279.3(ACSF3):c.977+1G>C rs141056046
NM_001243279.3(ACSF3):c.977+1G>T
NM_001243279.3(ACSF3):c.978-2A>G
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1329+1G>A rs2135500473
NM_001258392.3(CLPB):c.1560+2_1560+5del
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1681-1G>A
NM_001258392.3(CLPB):c.775+1G>A
NM_001258392.3(CLPB):c.873+1G>A rs974377052
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu) rs1198548955
NM_001352514.2(HLCS):c.1621-1G>C rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1960+1G>A rs2090068896
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del rs2145732111
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-2A>T
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly) rs2065662435
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) rs796051941
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg) rs955385869
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
NM_001609.4(ACADSB):c.1128+1_1128+3del rs1228768873
NM_001609.4(ACADSB):c.1228+1G>A rs943046481
NM_001609.4(ACADSB):c.202+1G>C
NM_001609.4(ACADSB):c.901-2A>G
NM_001698.3(AUH):c.584A>C (p.Asp195Ala) rs1827482942
NM_001698.3(AUH):c.599-2A>G rs1587799880
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.145-2A>T
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
NM_002225.5(IVD):c.287-2A>C rs781340220
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
NM_002225.5(IVD):c.457-1G>A
NM_002225.5(IVD):c.457-2A>T rs771914739
NM_002225.5(IVD):c.457C>G (p.Leu153Val) rs763665120
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.685_687+15del rs2141332016
NM_002225.5(IVD):c.687+1G>C rs2141332035
NM_002225.5(IVD):c.687+2T>C rs2141332040
NM_002225.5(IVD):c.785-2A>T
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.878+1G>A rs745629936
NM_002225.5(IVD):c.961-2A>T rs1057517056
NM_002225.5(IVD):c.967C>G (p.Gln323Glu) rs1891639284
NM_002225.5(IVD):c.977T>C (p.Met326Thr) rs1891640609
NM_005050.4(ABCD4):c.1457-1G>C
NM_014362.4(HIBCH):c.385+2T>A rs2105985080
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.664-2A>G
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys) rs779385985
NM_014384.3(ACAD8):c.939+1G>T
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-2A>G rs202000595
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) rs2149323564
NM_015506.3(MMACHC):c.366T>A (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.9+1G>A
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1189-1G>A rs2149843526
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del
NM_020166.5(MCCC1):c.1084-1G>C rs2108479565
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro) rs755328329
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.1378-1G>T rs2108470990
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1594+1G>A rs966900131
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1595-2A>G rs1235781420
NM_020166.5(MCCC1):c.1731+1G>A
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
NM_020166.5(MCCC1):c.1869+1G>A
NM_020166.5(MCCC1):c.1870-2A>G
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.273+1G>C
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr) rs776254500
NM_020166.5(MCCC1):c.369+2T>C
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu) rs1182086058
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.761+1G>A
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del) rs1715495987
NM_020166.5(MCCC1):c.873+1G>A
NM_020166.5(MCCC1):c.89+1G>A rs771730236
NM_020166.5(MCCC1):c.90-1G>A
NM_020166.5(MCCC1):c.90-1G>C rs1718608300
NM_020166.5(MCCC1):c.955+1G>A rs1340827377
NM_020166.5(MCCC1):c.955+1G>T
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
NM_022132.5(MCCC2):c.1072+1G>A
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
NM_022132.5(MCCC2):c.1149+1G>A rs2112460011
NM_022132.5(MCCC2):c.1149+1G>T rs2112460011
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala) rs2112463755
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp)
NM_022132.5(MCCC2):c.129+1G>T rs1744812773
NM_022132.5(MCCC2):c.130-2A>G
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro)
NM_022132.5(MCCC2):c.1373+2T>G rs2112468012
NM_022132.5(MCCC2):c.1441G>T (p.Val481Leu)
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.5(MCCC2):c.1488+1G>A rs2112469361
NM_022132.5(MCCC2):c.1574+1G>T rs730880265
NM_022132.5(MCCC2):c.1667C>A (p.Thr556Asn)
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile) rs1049171546
NM_022132.5(MCCC2):c.281+1G>T rs1580273474
NM_022132.5(MCCC2):c.282-9_285del rs2112308599
NM_022132.5(MCCC2):c.384-2A>G rs1745476784
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val)
NM_022132.5(MCCC2):c.511+1G>A rs1165990855
NM_022132.5(MCCC2):c.511+1G>T
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) rs752866557
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His) rs2112329234
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser)
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)
NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met) rs991996366
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.738+2T>G
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_022132.5(MCCC2):c.903+1G>T rs2112437820
NM_022132.5(MCCC2):c.903+2T>G
NM_022132.5(MCCC2):c.904-2A>T
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
NM_025136.4(OPA3):c.1A>G (p.Met1Val) rs1230629432
NM_032861.4(SERAC1):c.1684+1G>T rs2128410576
NM_032861.4(SERAC1):c.1684+2T>C
NM_052845.4(MMAB):c.134+1G>T
NM_052845.4(MMAB):c.134+2T>A
NM_052845.4(MMAB):c.290+1G>A rs1351673148
NM_052845.4(MMAB):c.2T>G (p.Met1Arg) rs869320655
NM_052845.4(MMAB):c.421+1G>A rs2136199734
NM_052845.4(MMAB):c.422-1G>A
NM_052845.4(MMAB):c.422-1G>C rs2136199436
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_145261.4(DNAJC19):c.210-2A>G
NM_145261.4(DNAJC19):c.280+1_280+5del rs753055824
NM_145261.4(DNAJC19):c.4-1G>A rs878852999
NM_145261.4(DNAJC19):c.4-24_15del
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_172250.3(MMAA):c.1145del (p.His382fs)
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.440-2A>G
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_172250.3(MMAA):c.562+2T>C
NM_172250.3(MMAA):c.659T>C (p.Val220Ala) rs941689476
NM_172250.3(MMAA):c.820-1G>C rs1553959017
NM_172250.3(MMAA):c.820-2A>G
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)

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