List of variants reported as pathogenic for classic organic aciduria by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 96

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252	0.00019
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_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)	rs763494292	0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	rs121964997	0.00005
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	rs564069299	0.00005
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)	rs772552898	0.00004
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	rs727504020	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_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	rs774159791	0.00003
NM_000255.4(MMUT):c.323G>A (p.Arg108His)	rs483352778	0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	rs121918256	0.00003
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	rs200596762	0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	rs398123278	0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	rs138149179	0.00003
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)	rs186031457	0.00003
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	rs772791252	0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)	rs747527726	0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992	0.00003
NM_000191.3(HMGCL):c.27del (p.Arg10fs)	rs1409716731	0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	rs761525156	0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	rs1238694184	0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	rs757325789	0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	rs587776889	0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	rs999844958	0.00002
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)	rs1212444447	0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	rs753288303	0.00001
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	rs1346775255	0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	rs887126161	0.00001
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	rs764173488	0.00001
NM_000255.4(MMUT):c.1560+1G>T	rs200019422	0.00001
NM_000255.4(MMUT):c.1677-1G>A	rs754369323	0.00001
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.2179C>T (p.Arg727Ter)	rs779990936	0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	rs780068818	0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	rs778702777	0.00001
NM_000255.4(MMUT):c.753+2T>A	rs796052006	0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	rs111033542	0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)	rs202247820	0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	rs190386869	0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)	rs758477536	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.398_399del (p.Gln133fs)	rs746135357	0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)	rs779893448	0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	rs398124295	0.00001
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	rs201266016	0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	rs546099787	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_000191.3(HMGCL):c.505_506del (p.Ser169fs)	rs764264834
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)	rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)	rs770466993
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)	rs879253825
NM_000255.4(MMUT):c.1332+1del	rs771542321
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)	rs1554161054
NM_000255.4(MMUT):c.1677-1G>C	rs754369323
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)	rs1554158377
NM_000255.4(MMUT):c.29dup (p.Leu10fs)	rs1437477079
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)	rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	rs1554160919
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)	rs758008398
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	rs879253834
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	rs780283588
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)	rs879253806
NM_000282.4(PCCA):c.600+1G>T	rs879253802
NM_000282.4(PCCA):c.923dup (p.Leu308fs)	rs573607437
NM_000532.5(PCCB):c.1173dup (p.Val392fs)	rs587776758
NM_000532.5(PCCB):c.966+1G>T	rs1385850128
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	rs786200983
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)	rs771944310
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	rs760612966
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)	rs398123138
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	rs397514362
NM_001370658.1(BTD):c.992del (p.Thr331fs)	rs397514398
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)	rs528744719
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
NM_015506.3(MMACHC):c.500del (p.Pro167fs)	rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	rs398124296
NM_052845.4(MMAB):c.585-2A>C	rs1555274254
NM_172250.3(MMAA):c.450dup (p.Pro151fs)	rs754973022
NM_172250.3(MMAA):c.551dup (p.Cys184fs)	rs1553958159
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	rs1553957883
NM_172250.3(MMAA):c.970-2A>T	rs1553959113

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.