List of variants studied for classic organic aciduria by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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		ClinVar version:

Total variants: 72

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val)	rs8589	0.58978
NM_052845.4(MMAB):c.56G>A (p.Arg19His)	rs10774775	0.31347
NM_000255.4(MMUT):c.1595G>A (p.Arg532His)	rs1141321	0.30110
NM_000255.4(MMUT):c.1676+77A>C	rs9381786	0.21722
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)	rs2229385	0.10476
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)	rs143793502	0.09373
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)	rs3817641	0.08986
NM_172250.3(MMAA):c.747G>A (p.Ser249=)	rs11721553	0.07844
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg)	rs58272575	0.07062
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val)	rs61744947	0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=)	rs57773157	0.06977
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile)	rs34992370	0.06330
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)	rs2270655	0.04892
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)	rs35719359	0.04130
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)	rs1051153	0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)	rs1051151	0.03295
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_015506.3(MMACHC):c.178G>C (p.Asp60His)	rs6662272	0.02835
NM_000019.4(ACAT1):c.-15C>G	rs113348145	0.02192
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)	rs185987427	0.01804
NM_018368.4(LMBRD1):c.980+11T>C	rs114726590	0.01756
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)	rs141722238	0.01632
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)	rs16957356	0.01499
NM_000282.4(PCCA):c.1429+7A>G	rs16957276	0.01356
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)	rs73559264	0.00941
NM_001243279.3(ACSF3):c.667-13T>C	rs139367843	0.00923
NM_001370658.1(BTD):c.585C>T (p.Leu195=)	rs145388314	0.00669
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)	rs61749895	0.00606
NM_005334.3(HCFC1):c.1445-14C>T	rs184593569	0.00544
NM_000532.5(PCCB):c.546G>A (p.Arg182=)	rs61598773	0.00533
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)	rs150642856	0.00479
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)	rs3027888	0.00450
NM_000019.4(ACAT1):c.903G>A (p.Ala301=)	rs75811190	0.00390
NM_001243279.3(ACSF3):c.823-26T>C	rs9921293	0.00317
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	rs140806722	0.00262
NM_000019.4(ACAT1):c.238+17C>T	rs199918672	0.00182
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)	rs148091558	0.00163
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)	rs150555106	0.00158
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)	rs147457956	0.00085
NM_000282.4(PCCA):c.1065+5C>T	rs201597816	0.00083
NM_002225.5(IVD):c.891G>A (p.Ala297=)	rs138427412	0.00069
NM_001370658.1(BTD):c.252T>C (p.Asp84=)	rs138545268	0.00056
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	rs138680796	0.00019
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)	rs201953109	0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00011
NM_001243279.3(ACSF3):c.823-6T>C	rs76096111	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)	rs202189863	0.00010
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	rs398123139	0.00007
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00002
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)	rs768097543	0.00002
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	rs111033542	0.00001
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)	rs764375610	0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	rs397514364	0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)	rs782766895	0.00001
NC_000019.10:g.39480831G>A	rs1600735654
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)	rs1591374629
NM_000282.4(PCCA):c.1285-13_1285-6del	rs535982202
NM_000282.4(PCCA):c.184-17_184-16del	rs111778723
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	rs144681140
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg)	rs35073715
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_018368.4(LMBRD1):c.981-10dup	rs202207965
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)	rs1389815526

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