ClinVar Miner

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

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 593
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00004
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943 0.00004
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00004
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164 0.00004
NM_032861.4(SERAC1):c.1763del (p.Val588fs) rs770661156 0.00004
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768 0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter) rs1450563045 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter) rs138156311 0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter) rs771558691 0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876 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_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln) rs121908422 0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) rs118204044 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 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.30del (p.Ser10fs) rs1565281236 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs) rs1565293957 0.00001
NM_000019.4(ACAT1):c.826+5_826+9del rs1410743762 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000191.3(HMGCL):c.497+4A>G rs568718845 0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.183+1G>A rs757540625 0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2119-9A>G rs1389933015 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter) rs2053984648 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) rs1349202366 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs) rs1481849460 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) rs375999824 0.00001
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090 0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter) rs1243213118 0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) rs776995095 0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter) rs1025201214 0.00001
NM_001243279.3(ACSF3):c.1613+1G>A rs770400253 0.00001
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040 0.00001
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter) rs1313088429 0.00001
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter) rs749538361 0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) rs759338401 0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs) rs758740850 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 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_014384.3(ACAD8):c.2T>C (p.Met1Thr) rs767041100 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 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.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter) rs367625370 0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_020166.5(MCCC1):c.1682-3A>G rs760180709 0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter) rs1163620394 0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val) rs748201122 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs) rs748269732 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.1064T>A (p.Leu355Ter) rs751393852 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs) rs780304038 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) rs745367639 0.00001
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter) rs1304896406 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 0.00001
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe) rs748028684 0.00001
NM_022132.5(MCCC2):c.383+2del rs1745349463 0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222 0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) rs774180632 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_052845.4(MMAB):c.380C>A (p.Ala127Asp) rs778169806 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro) rs760875006 0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) rs200577967 0.00001
NM_000019.4(ACAT1):c.1005+2T>G
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) rs1367121673
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) rs2134791667
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)
NM_000019.4(ACAT1):c.431A>C (p.His144Pro) rs1025180934
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.580-2A>G
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)
NM_000019.4(ACAT1):c.626dup (p.Asn209fs)
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.720dup (p.Thr241fs)
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) rs2134768525
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) rs765961551
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.814del (p.Gln272fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097
NM_000191.3(HMGCL):c.109G>A (p.Glu37Lys)
NM_000191.3(HMGCL):c.124G>A (p.Asp42Asn)
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.348+1G>C
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.610del (p.Asp204fs) rs2148419170
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
NM_000282.4(PCCA):c.105+1G>C
NM_000282.4(PCCA):c.106-1G>A rs769819121
NM_000282.4(PCCA):c.106-2A>G
NM_000282.4(PCCA):c.1065+1G>A
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1541-1G>C
NM_000282.4(PCCA):c.1847_1848del
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
NM_000282.4(PCCA):c.1899+1G>T
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.1900-1G>A rs2152998142
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041_2044del
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
NM_000282.4(PCCA):c.2119-2A>G rs867315913
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.284del (p.Asp95fs) rs775825345
NM_000282.4(PCCA):c.300+1G>A
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.414+1G>C
NM_000282.4(PCCA):c.415-1G>C
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.447del (p.Asn149fs)
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
NM_000282.4(PCCA):c.716+2T>C
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
NM_000282.4(PCCA):c.820-1G>T
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) rs121964957
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
NM_000282.4(PCCA):c.914+1G>A
NM_000411.8(HLCS):c.1681dup
NM_000532.5(PCCB):c.1199-1G>A
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
NM_000532.5(PCCB):c.1399-1G>C
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.183+5G>T
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>C
NM_000532.5(PCCB):c.187_203del rs2108137253
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs) rs2108146615
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
NM_000532.5(PCCB):c.543+2T>G
NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.655-2A>G rs1553778865
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
NM_000532.5(PCCB):c.854del (p.Pro285fs)
NM_000532.5(PCCB):c.884+1G>A
NM_000532.5(PCCB):c.967-2A>C rs1553782747
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs) rs2151453936
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter) rs1131691498
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs) rs2151454690
NM_001243279.3(ACSF3):c.1126+1G>A rs916461556
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)
NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)
NM_001243279.3(ACSF3):c.1239+1G>A
NM_001243279.3(ACSF3):c.1240-1G>A
NM_001243279.3(ACSF3):c.1247del (p.Pro416fs)
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs) rs775794698
NM_001243279.3(ACSF3):c.1293del (p.Val432fs)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs) rs764608253
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)
NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs) rs2151521127
NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs)
NM_001243279.3(ACSF3):c.1366+1G>T
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs) rs751342087
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)
NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs)
NM_001243279.3(ACSF3):c.1501+1G>A
NM_001243279.3(ACSF3):c.1501+1G>T
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs) rs745684193
NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs)
NM_001243279.3(ACSF3):c.1577dup (p.His526fs)
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter) rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs) rs1912887899
NM_001243279.3(ACSF3):c.1614-2A>G
NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs)
NM_001243279.3(ACSF3):c.16del (p.Val6fs) rs1338859307
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) rs796051924
NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs)
NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)
NM_001243279.3(ACSF3):c.261del (p.Cys88fs) rs775569136
NM_001243279.3(ACSF3):c.265_266del (p.Val89fs)
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile) rs1378197369
NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs)
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter) rs1313088429
NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs)
NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)
NM_001243279.3(ACSF3):c.560dup (p.Glu189fs)
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)
NM_001243279.3(ACSF3):c.653del (p.Asn218fs)
NM_001243279.3(ACSF3):c.667-2A>G
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter) rs1432097143
NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs) rs1975494455
NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs) rs767946490
NM_001243279.3(ACSF3):c.822+1G>A rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C rs1975502704
NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
NM_001243279.3(ACSF3):c.967del (p.Glu323fs)
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_001258392.3(CLPB):c.455+1G>A rs1856507751
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-24A>T
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.167del (p.Leu56fs)
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.52del (p.Val18fs)
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.799del (p.Ala267fs)
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001609.4(ACADSB):c.1228+1G>A rs943046481
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1066del
NM_002225.5(IVD):c.1087dup (p.Tyr363fs)
NM_002225.5(IVD):c.109G>A (p.Asp37Asn) rs2141289961
NM_002225.5(IVD):c.1140del (p.Gly381fs)
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
NM_002225.5(IVD):c.350G>A (p.Arg117Gln) rs145725101
NM_002225.5(IVD):c.394del (p.Leu132fs)
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
NM_002225.5(IVD):c.457-2A>C
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.526A>G (p.Met176Val)
NM_002225.5(IVD):c.581del (p.Phe194fs)
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
NM_002225.5(IVD):c.761_785-762del
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.878+2T>C
NM_002225.5(IVD):c.928del (p.Glu310fs)
NM_002225.5(IVD):c.960+1G>A
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs) rs2149323799
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs) rs2149323855
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.373-2A>G
NM_015702.3(MMADHC):c.479-2A>G
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
NM_015702.3(MMADHC):c.610-1G>A
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
NM_015702.3(MMADHC):c.9+1G>A
NM_020166.5(MCCC1):c.1114del (p.Gln372fs)
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter)
NM_020166.5(MCCC1):c.1594+1G>A rs966900131
NM_020166.5(MCCC1):c.1605_1606del (p.Pro536fs)
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs)
NM_020166.5(MCCC1):c.1669delinsAA (p.Asp557fs)
NM_020166.5(MCCC1):c.1681+5G>A
NM_020166.5(MCCC1):c.1682-1G>A
NM_020166.5(MCCC1):c.1699_1703del (p.Val566_Thr567insTer)
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)
NM_020166.5(MCCC1):c.1750_1756del (p.Gln584fs)
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer) rs2108441513
NM_020166.5(MCCC1):c.1869+1G>A
NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter) rs1311139055
NM_020166.5(MCCC1):c.191_192del (p.Val64fs)
NM_020166.5(MCCC1):c.2000_2001del (p.Lys667fs)
NM_020166.5(MCCC1):c.210_211insT (p.Leu71fs)
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter) rs1177891822
NM_020166.5(MCCC1):c.341_344del (p.Ile114fs)
NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter)
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter) rs2108526606
NM_020166.5(MCCC1):c.548del (p.Gly183fs)
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)
NM_020166.5(MCCC1):c.716_720del (p.Ser238_Phe239insTer)
NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)
NM_020166.5(MCCC1):c.89+2_89+4del
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
NM_022132.5(MCCC2):c.1073-12C>G
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) rs763293192
NM_022132.5(MCCC2):c.1149+1G>A rs2112460011
NM_022132.5(MCCC2):c.1150-2A>G
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
NM_022132.5(MCCC2):c.1216+1G>A
NM_022132.5(MCCC2):c.1216+1G>T
NM_022132.5(MCCC2):c.1216+2T>A rs1554138265
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) rs2112251855
NM_022132.5(MCCC2):c.130-2A>G
NM_022132.5(MCCC2):c.1375C>T (p.Pro459Ser)
NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter)
NM_022132.5(MCCC2):c.1378dup (p.Arg460fs)
NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys)
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.1574+1G>T rs730880265
NM_022132.5(MCCC2):c.1581G>A (p.Trp527Ter)
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter) rs796051989
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.281+1del
NM_022132.5(MCCC2):c.281+2T>C
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter)
NM_022132.5(MCCC2):c.511+2_511+3delinsGG
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)
NM_022132.5(MCCC2):c.581del (p.Thr194fs) rs1190325113
NM_022132.5(MCCC2):c.588T>A (p.Tyr196Ter)
NM_022132.5(MCCC2):c.608del (p.Ser203fs)
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022132.5(MCCC2):c.70del (p.His24fs)
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_022132.5(MCCC2):c.739del rs1463802125
NM_022132.5(MCCC2):c.759_760delinsC (p.Glu253fs)
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
NM_022132.5(MCCC2):c.803+1G>A
NM_022132.5(MCCC2):c.803+2T>C
NM_022132.5(MCCC2):c.826del (p.Trp276fs)
NM_022132.5(MCCC2):c.920dup (p.Ser307_Glu308insTer)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.953A>G (p.Tyr318Cys)
NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs)
NM_025136.4(OPA3):c.142+1G>A rs1555736793
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)
NM_025136.4(OPA3):c.227dup (p.Ala77fs)
NM_025136.4(OPA3):c.287del (p.Cys96fs)
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.45del (p.Ile16fs)
NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
NM_052845.4(MMAB):c.290+1G>A rs1351673148
NM_052845.4(MMAB):c.32del (p.Gly11fs)
NM_052845.4(MMAB):c.502dup (p.Thr168fs)
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.112del (p.Ile38fs)
NM_172250.3(MMAA):c.255del (p.Phe85fs)
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del) rs780082584
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
NM_172250.3(MMAA):c.405del (p.Gln135fs)
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.439+1G>A rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) rs864309729
NM_172250.3(MMAA):c.601del (p.Ser201fs)
NM_172250.3(MMAA):c.708dup (p.Asp237Ter)
NM_172250.3(MMAA):c.733+1G>T
NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)
NM_172250.3(MMAA):c.820-1G>C rs1553959017
NM_172250.3(MMAA):c.936dup (p.Leu313fs)
NM_172250.3(MMAA):c.963_969+4del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.