List of variants in gene MMAA reported as likely benign for classic organic aciduria

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

Total variants: 205

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HGVS	dbSNP	gnomAD frequency
NM_172250.3(MMAA):c.*3285G>A	rs142885287	0.03017
NM_172250.3(MMAA):c.*2364A>G	rs13129907	0.02803
NM_172250.3(MMAA):c.597G>A (p.Glu199=)	rs116773849	0.00262
NM_172250.3(MMAA):c.*97G>C	rs148424051	0.00178
NM_172250.3(MMAA):c.*1952T>C	rs79927727	0.00074
NM_172250.3(MMAA):c.966A>G (p.Pro322=)	rs150692463	0.00073
NM_172250.3(MMAA):c.879A>G (p.Gly293=)	rs146352309	0.00072
NM_172250.3(MMAA):c.*3254A>C	rs539831571	0.00048
NM_172250.3(MMAA):c.57A>G (p.Ala19=)	rs143211378	0.00035
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)	rs371714495	0.00031
NM_172250.3(MMAA):c.630A>G (p.Pro210=)	rs374347679	0.00017
NM_172250.3(MMAA):c.729C>T (p.Thr243=)	rs138111772	0.00014
NM_172250.3(MMAA):c.440-17A>T	rs373100355	0.00011
NM_172250.3(MMAA):c.440-6C>T	rs374784209	0.00009
NM_172250.3(MMAA):c.733+13T>C	rs768662983	0.00007
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)	rs777459994	0.00006
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)	rs199749473	0.00005
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)	rs767115507	0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=)	rs371769807	0.00005
NM_172250.3(MMAA):c.378A>G (p.Val126=)	rs750237065	0.00004
NM_172250.3(MMAA):c.440-4G>A	rs780768376	0.00004
NM_172250.3(MMAA):c.562+11C>T	rs746737805	0.00004
NM_172250.3(MMAA):c.563-12T>C	rs199938583	0.00003
NM_172250.3(MMAA):c.787C>T (p.Leu263=)	rs759947234	0.00003
NM_172250.3(MMAA):c.970-5G>A	rs370814663	0.00003
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)	rs552250080	0.00002
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)	rs1209585004	0.00002
NM_172250.3(MMAA):c.585C>T (p.Thr195=)	rs571797666	0.00002
NM_172250.3(MMAA):c.970-6C>T	rs774402841	0.00002
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)	rs1010401774	0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=)	rs779779664	0.00001
NM_172250.3(MMAA):c.159G>A (p.Lys53=)	rs1191388669	0.00001
NM_172250.3(MMAA):c.15A>G (p.Leu5=)	rs755914586	0.00001
NM_172250.3(MMAA):c.177T>C (p.Asp59=)	rs1727713075	0.00001
NM_172250.3(MMAA):c.258G>A (p.Val86=)	rs1240108337	0.00001
NM_172250.3(MMAA):c.336C>T (p.His112=)	rs771388415	0.00001
NM_172250.3(MMAA):c.33T>C (p.His11=)	rs370983676	0.00001
NM_172250.3(MMAA):c.440-5C>T	rs759611574	0.00001
NM_172250.3(MMAA):c.563-9A>G	rs1361037765	0.00001
NM_172250.3(MMAA):c.702G>A (p.Ala234=)	rs781525637	0.00001
NM_172250.3(MMAA):c.734-8A>G	rs778057240	0.00001
NM_172250.3(MMAA):c.756T>C (p.Ala252=)	rs781124654	0.00001
NM_172250.3(MMAA):c.795A>C (p.Pro265=)	rs767934772	0.00001
NM_172250.3(MMAA):c.819+10T>A	rs1202834297	0.00001
NM_172250.3(MMAA):c.840C>T (p.Ile280=)	rs750509072	0.00001
NM_172250.3(MMAA):c.891G>A (p.Val297=)	rs1315370286	0.00001
NM_172250.3(MMAA):c.927A>G (p.Ala309=)	rs769082931	0.00001
NM_172250.3(MMAA):c.970-7T>C	rs770942394	0.00001
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)	rs1018880684
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
NM_172250.3(MMAA):c.1005C>A (p.Ile335=)	rs2126629821
NM_172250.3(MMAA):c.1020T>C (p.Asp340=)
NM_172250.3(MMAA):c.1023A>G (p.Lys341=)	rs2126629831
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
NM_172250.3(MMAA):c.1056T>C (p.Ser352=)	rs1302017266
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
NM_172250.3(MMAA):c.1095T>C (p.Val365=)	rs2126629917
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
NM_172250.3(MMAA):c.1131G>A (p.Glu377=)	rs2126629961
NM_172250.3(MMAA):c.1146C>T (p.His382=)	rs1186287486
NM_172250.3(MMAA):c.1149C>A (p.Pro383=)	rs2126629982
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
NM_172250.3(MMAA):c.1170A>G (p.Pro390=)	rs2126630021
NM_172250.3(MMAA):c.1179A>G (p.Glu393=)	rs1578888894
NM_172250.3(MMAA):c.117A>G (p.Pro39=)	rs2126617113
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
NM_172250.3(MMAA):c.1203G>A (p.Leu401=)	rs2126630061
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)	rs1374931888
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
NM_172250.3(MMAA):c.150T>C (p.His50=)	rs2126617181
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
NM_172250.3(MMAA):c.166C>T (p.Leu56=)	rs2126617212
NM_172250.3(MMAA):c.168G>A (p.Leu56=)	rs1396471571
NM_172250.3(MMAA):c.168G>T (p.Leu56=)	rs1396471571
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
NM_172250.3(MMAA):c.201A>G (p.Val67=)
NM_172250.3(MMAA):c.204A>G (p.Gln68=)	rs1727714117
NM_172250.3(MMAA):c.210C>T (p.Thr70=)
NM_172250.3(MMAA):c.21T>C (p.His7=)
NM_172250.3(MMAA):c.222C>T (p.His74=)	rs1578877626
NM_172250.3(MMAA):c.240T>C (p.Asp80=)	rs2126617322
NM_172250.3(MMAA):c.246G>A (p.Glu82=)	rs750230122
NM_172250.3(MMAA):c.255T>C (p.Phe85=)	rs2126617358
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)	rs148404005
NM_172250.3(MMAA):c.288G>A (p.Gly96=)	rs559279147
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
NM_172250.3(MMAA):c.342G>A (p.Arg114=)	rs774790573
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
NM_172250.3(MMAA):c.363G>C (p.Val121=)	rs2126617517
NM_172250.3(MMAA):c.369T>G (p.Leu123=)	rs1418638749
NM_172250.3(MMAA):c.36C>T (p.Phe12=)	rs1661385949
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
NM_172250.3(MMAA):c.390C>T (p.His130=)
NM_172250.3(MMAA):c.39A>C (p.Leu13=)	rs1727705456
NM_172250.3(MMAA):c.402A>G (p.Glu134=)	rs2126617588
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
NM_172250.3(MMAA):c.414A>G (p.Lys138=)	rs1237655127
NM_172250.3(MMAA):c.439+12T>G
NM_172250.3(MMAA):c.439+14G>T
NM_172250.3(MMAA):c.439+14del
NM_172250.3(MMAA):c.439+16G>C
NM_172250.3(MMAA):c.439+9T>C
NM_172250.3(MMAA):c.440-10dup
NM_172250.3(MMAA):c.440-19A>C
NM_172250.3(MMAA):c.440-7A>C	rs1337205137
NM_172250.3(MMAA):c.440-9C>A
NM_172250.3(MMAA):c.453C>G (p.Pro151=)	rs879110861
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
NM_172250.3(MMAA):c.513G>A (p.Gly171=)	rs2126620000
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
NM_172250.3(MMAA):c.51A>G (p.Leu17=)
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
NM_172250.3(MMAA):c.562+17C>A
NM_172250.3(MMAA):c.562+18T>G
NM_172250.3(MMAA):c.562+7A>T	rs2126620073
NM_172250.3(MMAA):c.562+8T>C
NM_172250.3(MMAA):c.562+9G>A	rs2126620076
NM_172250.3(MMAA):c.563-17G>A
NM_172250.3(MMAA):c.563-4T>A
NM_172250.3(MMAA):c.564A>T (p.Gly188=)	rs1727918663
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
NM_172250.3(MMAA):c.600A>G (p.Leu200=)	rs2126622751
NM_172250.3(MMAA):c.603A>G (p.Ser201=)	rs2126622760
NM_172250.3(MMAA):c.618A>G (p.Ala206=)	rs1727920444
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
NM_172250.3(MMAA):c.657C>A (p.Gly219=)	rs1291307841
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
NM_172250.3(MMAA):c.660G>A (p.Val220=)
NM_172250.3(MMAA):c.663A>G (p.Thr221=)	rs2126622855
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
NM_172250.3(MMAA):c.733+12A>G
NM_172250.3(MMAA):c.733+16T>G
NM_172250.3(MMAA):c.733+9G>A
NM_172250.3(MMAA):c.734-13T>C
NM_172250.3(MMAA):c.734-15G>A
NM_172250.3(MMAA):c.734-20G>A
NM_172250.3(MMAA):c.734-9C>A	rs756275016
NM_172250.3(MMAA):c.734-9C>T	rs756275016
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
NM_172250.3(MMAA):c.762T>C (p.Ala254=)	rs1033389087
NM_172250.3(MMAA):c.771T>C (p.Val257=)	rs2126627142
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
NM_172250.3(MMAA):c.783T>A (p.Val261=)	rs2126627167
NM_172250.3(MMAA):c.783T>G (p.Val261=)
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
NM_172250.3(MMAA):c.78C>T (p.Phe26=)	rs2126617065
NM_172250.3(MMAA):c.816G>A (p.Leu272=)	rs1728078075
NM_172250.3(MMAA):c.819+11T>G
NM_172250.3(MMAA):c.819+13del
NM_172250.3(MMAA):c.819+8T>C
NM_172250.3(MMAA):c.81C>T (p.Ile27=)	rs2126617076
NM_172250.3(MMAA):c.820-10A>C	rs2126629035
NM_172250.3(MMAA):c.820-13C>G
NM_172250.3(MMAA):c.820-15T>G
NM_172250.3(MMAA):c.820-18T>C
NM_172250.3(MMAA):c.820-7T>C
NM_172250.3(MMAA):c.820-8C>G	rs1728162232
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
NM_172250.3(MMAA):c.858A>G (p.Val286=)	rs142063642
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
NM_172250.3(MMAA):c.885G>A (p.Leu295=)	rs2126629113
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
NM_172250.3(MMAA):c.924T>C (p.Ser308=)	rs2126629166
NM_172250.3(MMAA):c.933A>G (p.Lys311=)	rs2126629176
NM_172250.3(MMAA):c.942C>A (p.Arg314=)	rs773218154
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
NM_172250.3(MMAA):c.957C>T (p.Val319=)
NM_172250.3(MMAA):c.969+10C>T	rs1728168081
NM_172250.3(MMAA):c.969+15A>C
NM_172250.3(MMAA):c.969+15A>G
NM_172250.3(MMAA):c.969+18C>T
NM_172250.3(MMAA):c.969+20G>T
NM_172250.3(MMAA):c.969+9G>A	rs1007611523
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
NM_172250.3(MMAA):c.970-19G>T
NM_172250.3(MMAA):c.970-3dup
NM_172250.3(MMAA):c.970-4A>T	rs1728189053
NM_172250.3(MMAA):c.970-5G>T
NM_172250.3(MMAA):c.972A>G (p.Val324=)	rs2126629778
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
NM_172250.3(MMAA):c.99T>C (p.His33=)	rs2126617089

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