List of variants reported as uncertain significance for classic organic aciduria by Genome-Nilou Lab

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: 139

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HGVS	dbSNP	gnomAD frequency
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)	rs150555106	0.00158
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)	rs118169528	0.00088
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)	rs149291867	0.00087
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)	rs201617713	0.00081
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_032861.4(SERAC1):c.1404-3C>G	rs367596327	0.00045
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)	rs201898615	0.00038
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)	rs137958217	0.00036
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)	rs114741005	0.00036
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)	rs139120939	0.00021
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)	rs143065058	0.00014
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)	rs754862915	0.00013
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)	rs147085187	0.00013
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)	rs148032473	0.00012
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)	rs139520739	0.00012
NM_172250.3(MMAA):c.941G>A (p.Arg314His)	rs148142853	0.00012
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)	rs200955062	0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)	rs377359610	0.00011
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	rs141518662	0.00011
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)	rs202189863	0.00010
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)	rs144411003	0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)	rs199641732	0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=)	rs370773720	0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)	rs374795215	0.00009
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)	rs142447736	0.00008
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)	rs538620811	0.00007
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)	rs759448696	0.00007
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)	rs925180956	0.00006
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)	rs781133955	0.00005
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)	rs368688262	0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)	rs777758512	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)	rs370229341	0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)	rs745419717	0.00004
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)	rs750965429	0.00004
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)	rs863224200	0.00004
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)	rs375757326	0.00004
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)	rs533819939	0.00004
NM_000191.3(HMGCL):c.349-3C>A	rs777476731	0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)	rs746968587	0.00003
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser)	rs1196513317	0.00003
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)	rs887791543	0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)	rs779852958	0.00003
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)	rs373738626	0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	rs121964996	0.00002
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)	rs764360500	0.00002
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)	rs764926275	0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)	rs761468576	0.00002
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)	rs548026367	0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)	rs747338200	0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	rs901081235	0.00002
NM_015506.2(MMACHC):c.-123A>T	rs539415170	0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)	rs201269886	0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs)	rs757384010	0.00002
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln)	rs148088842	0.00002
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys)	rs772848693	0.00001
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)	rs747529727	0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)	rs1303119110	0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)	rs565348836	0.00001
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys)	rs753955254	0.00001
NM_000282.4(PCCA):c.2173G>A (p.Val725Met)	rs747593363	0.00001
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)	rs749118295	0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)	rs772225967	0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)	rs1217366809	0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)	rs187869948	0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)	rs886046368	0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)	rs759921519	0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)	rs1161394470	0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)	rs780926592	0.00001
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)	rs149268368	0.00001
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)	rs756437003	0.00001
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)	rs191643294	0.00001
NM_172250.3(MMAA):c.313A>G (p.Ile105Val)	rs1284134117	0.00001
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val)	rs774524997
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)	rs754437215
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)	rs754437215
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)	rs886046314
NM_000191.3(HMGCL):c.497+3G>A	rs763178392
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val)	rs2148422419
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)	rs1553131940
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)	rs1445870588
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)	rs1488079271
NM_000255.4(MMUT):c.733A>G (p.Ile245Val)	rs754464973
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr)	rs2152684002
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)	rs767997785
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala)	rs749767976
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly)	rs746776657
NM_000282.4(PCCA):c.895G>A (p.Val299Met)	rs1188239325
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)	rs146927771
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)	rs781134234
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)	rs748444836
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)	rs767700692
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)	rs1295528438
NM_001370658.1(BTD):c.195C>T (p.Leu65=)	rs2125454784
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)	rs2125500615
NM_002225.5(IVD):c.607G>C (p.Asp203His)	rs2141331313
NM_002225.5(IVD):c.813G>A (p.Lys271=)	rs767825575
NM_015506.3(MMACHC):c.*5C>G	rs557994288
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)	rs201777449
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)	rs2149323547
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)	rs1006520706
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)	rs369335868
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)	rs74365027
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)	rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)	rs372010149
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)	rs375442063
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)	rs483352740
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)	rs199641732
NM_015506.3(MMACHC):c.701del (p.Leu234fs)	rs767339897
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)	rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)	rs533256855
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)	rs1553163005
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015506.3(MMACHC):c.839del (p.Pro280fs)	rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)	rs1553163019
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	rs201025783
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)	rs398124352
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)	rs1367329678
NM_020166.5(MCCC1):c.453C>T (p.Gly151=)	rs1716764203
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr)	rs2108526676
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln)	rs2112463776
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys)	rs2112472855
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr)	rs2112438294
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)	rs1384614641

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