ClinVar Miner

List of variants reported as benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 199
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HGVS dbSNP
NM_000019.3(ACAT1):c.*599A>C rs2280332
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.-9T>A rs3741055
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000116.3(TAZ):c.-120delT rs11388353
NM_000116.5(TAZ):c.*470= rs743547
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_000191.3(HMGCL):c.*486G>A rs11714
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1676+77A>C rs9381786
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000411.7(HLCS):c.-466A>G rs117138955
NM_000411.7(HLCS):c.-471A>G rs118091633
NM_000411.7(HLCS):c.-480-12A>G rs115866403
NM_000411.8(HLCS):c.*2622G>A rs14407
NM_000411.8(HLCS):c.*3141_*3142dup rs3031056
NM_000411.8(HLCS):c.-405T>C rs117476389
NM_000411.8(HLCS):c.-433C>T rs115711809
NM_000411.8(HLCS):c.1176G>A (p.Ala392=) rs111603166
NM_000411.8(HLCS):c.1528G>A (p.Gly510Arg) rs75867009
NM_000411.8(HLCS):c.1672G>A (p.Glu558Lys) rs149736764
NM_000411.8(HLCS):c.1710C>T (p.Asn570=) rs148709879
NM_000411.8(HLCS):c.1920C>T (p.Val640=) rs61732507
NM_000411.8(HLCS):c.1921G>A (p.Val641Met) rs150665851
NM_000411.8(HLCS):c.2142C>T (p.Phe714=) rs532108774
NM_000411.8(HLCS):c.285C>T (p.Pro95=) rs2230182
NM_000411.8(HLCS):c.424G>A (p.Val142Ile) rs149291867
NM_000411.8(HLCS):c.473C>T (p.Thr158Met) rs112176097
NM_000411.8(HLCS):c.561C>T (p.Ala187=) rs116114362
NM_000411.8(HLCS):c.633G>A (p.Thr211=) rs116985497
NM_000411.8(HLCS):c.971G>A (p.Arg324His) rs61732501
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_001017989.3(OPA3):c.143-17268T>C rs10422253
NM_001017989.3(OPA3):c.143-18046A>G rs11083772
NM_001017989.3(OPA3):c.143-18535G>A rs57585727
NM_001017989.3(OPA3):c.143-19201A>T rs4803833
NM_001017989.3(OPA3):c.143-19208_143-19206del rs144752998
NM_001017989.3(OPA3):c.143-19362ATAA[8] rs58537694
NM_001017989.3(OPA3):c.143-19740T>C rs4802261
NM_001017989.3(OPA3):c.143-19926CCCTG[3] rs68079762
NM_001017989.3(OPA3):c.143-20671G>A rs3760844
NM_001017989.3(OPA3):c.143-20947AGC[3] rs542311224
NM_001017989.3(OPA3):c.143-22108G>A rs4404183
NM_001017989.3(OPA3):c.143-22770dup rs74313320
NM_001017989.3(OPA3):c.143-23072del rs377547137
NM_001017989.3(OPA3):c.143-23906G>A rs3826861
NM_001017989.3(OPA3):c.143-24367T>C rs3826860
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.516C>T (p.Asn172=) rs576450214
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.646+7281G>A rs150552809
NM_001258392.3(CLPB):c.776-10C>G rs141271919
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721
NM_001293273.1(MCCC1):c.-192G>C rs937652
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911
NM_001370658.1(BTD):c.151C>T (p.Leu51=) rs397514342
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.174C>T (p.Ser58=) rs397514344
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.384C>A (p.Arg128=) rs397514358
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*262C>T rs12248515
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*545G>A rs1140593
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_002225.5(IVD):c.*1471G>A rs4923865
NM_002225.5(IVD):c.*1577C>G rs11630850
NM_002225.5(IVD):c.*1610C>T rs11630878
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*2275T>C rs11790
NM_002225.5(IVD):c.*261G>A rs2075624
NM_002225.5(IVD):c.*2844T>C rs7207
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*808C>G rs2075625
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) rs35181923
NM_014384.2(ACAD8):c.210+6C>T rs148089913
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261
NM_015702.3(MMADHC):c.478+6T>G rs13402787
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_022132.5(MCCC2):c.*1198C>T rs277975
NM_022132.5(MCCC2):c.*247C>T rs1135667
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.904-12A>G rs277984
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062
NM_030943.3(AMN):c.296-9C>T rs373204347
NM_030943.3(AMN):c.363G>A (p.Gly121=) rs141455061
NM_030943.3(AMN):c.829A>G (p.Thr277Ala) rs146499374
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_032601.4(MCEE):c.428G>A (p.Arg143His) rs115175255
NM_052845.3(MMAB):c.-180C>T rs66486014
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_145261.4(DNAJC19):c.*188G>A rs1051411
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_174917.5(ACSF3):c.854C>T (p.Pro285Leu) rs143793502

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