List of variants reported as pathogenic for classic organic aciduria by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_002225.5(IVD):c.932C>T (p.Ala311Val)	rs28940889	0.00077
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	rs749272546	0.00062
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252	0.00021
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436	0.00019
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00014
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242	0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	rs202153130	0.00007
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	rs762991875	0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)	rs763494292	0.00006
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	rs564069299	0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	rs141371306	0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	rs28934601	0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	rs727504020	0.00005
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_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	rs121964997	0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)	rs727503963	0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His)	rs121918251	0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)	rs727504022	0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	rs760782399	0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	rs761477436	0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	rs746877433	0.00004
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	rs774159791	0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	rs143023066	0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	rs121918256	0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	rs398123278	0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	rs200203460	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_001698.3(AUH):c.589C>T (p.Arg197Ter)	rs121434636	0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	rs201266016	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_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)	rs121964961	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_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	rs398124295	0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	rs587776889	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_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	rs753288303	0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	rs765284825	0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	rs779990936	0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	rs535411418	0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)	rs121918257	0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His)	rs483352778	0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	rs780068818	0.00001
NM_000255.4(MMUT):c.753+1G>A	rs1028877309	0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)	rs202247820	0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)	rs186031457	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs)	rs386833771	0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)	rs759203841	0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)	rs387907118	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_002225.5(IVD):c.784+1G>A	rs763471771	0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	rs796051995	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
NM_000255.4(MMUT):c.1332+1del	rs771542321
NM_000255.4(MMUT):c.1956+2T>C	rs750619189
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)	rs879253848
NM_000255.4(MMUT):c.312del (p.Trp105fs)	rs1064793768
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	rs1554160919
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	rs1554160638
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	rs879253834
NM_000255.4(MMUT):c.753+2T>A	rs796052006
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)	rs879253824
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	rs780387525
NM_000282.4(PCCA):c.923dup (p.Leu308fs)	rs573607437
NM_000532.5(PCCB):c.1173dup (p.Val392fs)	rs587776758
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	rs397507445
NM_000532.5(PCCB):c.1498+2T>C	rs879253816
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)	rs398123463
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	rs786200983
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)	rs386833778
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)	rs770921101
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	rs757649673
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)	rs1161400848
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)	rs1064793662
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs)	rs749264632
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)	rs370596113
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	rs765913293
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	rs398124296
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)	rs762463137
NM_020166.5(MCCC1):c.558del (p.Gln186fs)	rs1212517901
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)	rs150862707
NM_025136.4(OPA3):c.143-1G>C	rs80356523
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	rs796051993

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