List of variants reported as pathogenic for classic organic aciduria by Revvity Omics, Revvity

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		ClinVar version:

Total variants: 79

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
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_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.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00026
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252	0.00021
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.1429C>T (p.Pro477Ser)	rs138818907	0.00011
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_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	rs121964997	0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His)	rs121918251	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_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)	rs201877440	0.00004
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	rs138149179	0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992	0.00003
NM_000255.4(MMUT):c.1084-10A>G	rs777031588	0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	rs1238694184	0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	rs772791252	0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)	rs397509363	0.00002
NM_018368.4(LMBRD1):c.1339-1G>T	rs768709895	0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)	rs529232938	0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	rs999844958	0.00002
NM_000255.4(MMUT):c.1957-2A>G	rs1554158379	0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	rs535411418	0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)	rs768703749	0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)	rs1194679272	0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	rs111033542	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_001243279.3(ACSF3):c.666+1G>A	rs1336382616	0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287	0.00001
NM_002225.5(IVD):c.456+2T>C	rs398123683	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423	0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)	rs864309731	0.00001
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)	rs1565297723
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	rs541517496
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000191.3(HMGCL):c.621del (p.Val208fs)	rs2148419158
NM_000191.3(HMGCL):c.71C>A (p.Ser24Ter)	rs778751712
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)	rs752898811
NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter)	rs2127417916
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	rs879253852
NM_000255.4(MMUT):c.312del (p.Trp105fs)	rs1064793768
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	rs780283588
NM_000255.4(MMUT):c.753+2T>A	rs796052006
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)	rs879253806
NM_000282.4(PCCA):c.722del (p.Gly241fs)	rs745571507
NM_000532.5(PCCB):c.1142dup (p.Cys381fs)	rs2108237854
NM_000532.5(PCCB):c.430-1G>A	rs2108146606
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	rs2151444797
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
NM_001370658.1(BTD):c.1103dup (p.Asn369fs)	rs2125504069
NM_001370658.1(BTD):c.1204dup (p.Leu402fs)	rs397514411
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_001370658.1(BTD):c.500del (p.Pro167fs)	rs2125500629
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)	rs398123681
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs)	rs749264632
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs)	rs2108478897
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)	rs1718431677
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	rs2112251855
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)	rs752593298
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)	rs761964407

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