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

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

Total variants: 105

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HGVS	dbSNP
NM_000060.2(BTD):c.1052delC (p.Thr351Lysfs)	rs397514398
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)	rs763494292
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	rs121964997
NM_000191.3(HMGCL):c.27del (p.Arg10fs)	rs1409716731
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)	rs1212444447
NM_000191.3(HMGCL):c.503_504TC[1] (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.1105C>T (p.Arg369Cys)	rs772552898
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	rs564069299
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	rs727504020
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	rs753288303
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	rs1346775255
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)	rs879253825
NM_000255.4(MMUT):c.1332+1del	rs771542321
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	rs774159791
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	rs887126161
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	rs764173488
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	rs761525156
NM_000255.4(MMUT):c.1560+1G>T	rs200019422
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)	rs1554161054
NM_000255.4(MMUT):c.1677-1G>A	rs754369323
NM_000255.4(MMUT):c.1677-1G>C	rs754369323
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	rs1238694184
NM_000255.4(MMUT):c.1957-2A>G	rs1554158379
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)	rs1554158377
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	rs779990936
NM_000255.4(MMUT):c.29dup (p.Leu10fs)	rs1437477079
NM_000255.4(MMUT):c.323G>A (p.Arg108His)	rs483352778
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)	rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	rs1554160919
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	rs780068818
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	rs760782399
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	rs778702777
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	rs121918256
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)	rs758008398
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	rs200596762
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	rs879253834
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	rs780283588
NM_000255.4(MMUT):c.753+2T>A	rs796052006
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	rs761477436
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	rs398123278
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)	rs879253806
NM_000282.4(PCCA):c.1284+1G>A	rs752761437
NM_000282.4(PCCA):c.231+1G>C	rs972937270
NM_000282.4(PCCA):c.600+1G>T	rs879253802
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	rs138149179
NM_000411.8(HLCS):c.1522C>T (p.Arg508Trp)	rs119103229
NM_000411.8(HLCS):c.1693C>T (p.Arg565Ter)	rs772791252
NM_000411.8(HLCS):c.782del (p.Gly261fs)	rs771944310
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	rs111033542
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)	rs202247820
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)	rs186031457
NM_000532.5(PCCB):c.966+1G>T	rs1385850128
NM_001017989.3(OPA3):c.143-24456G>C	rs80356523
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	rs760612966
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)	rs398123138
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	rs397514362
NM_001370658.1(BTD):c.410G>A (p.Arg137His)	rs146015592
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	rs190386869
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	rs28934601
NM_002225.3(IVD):c.941C>T (p.Ala314Val)	rs28940889
NM_015506.2(MMACHC):c.271dupA	rs398124292
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)	rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	rs796051995
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)	rs528744719
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	rs746135357
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)	rs779893448
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	rs757325789
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113
NM_015506.3(MMACHC):c.500del (p.Pro167fs)	rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)	rs747527726
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	rs398124296
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	rs201266016
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	rs546099787
NM_052845.4(MMAB):c.197-1G>T	rs763935916
NM_052845.4(MMAB):c.291-1G>A	rs199971687
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784
NM_052845.4(MMAB):c.585-2A>C	rs1555274254
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	rs999844958
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	rs104893846
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851
NM_172250.3(MMAA):c.450dup (p.Pro151fs)	rs754973022
NM_172250.3(MMAA):c.551dup (p.Cys184fs)	rs1553958159
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	rs1029096863
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	rs765799472
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	rs1553957883
NM_172250.3(MMAA):c.970-2A>T	rs1553959113

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