ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Natera, Inc.

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2041-2A>G rs776281864 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_000282.4(PCCA):c.415-2A>C rs746286209 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1498+2T>C rs879253816
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.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.81+1G>A rs745366624
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-2A>G rs2108474093
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.512-1G>A rs1282502867
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993

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