ClinVar Miner

List of variants reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP
NM_000019.3(ACAT1):c.*250C>T rs79179095
NM_000019.3(ACAT1):c.*258G>A rs79764488
NM_000019.3(ACAT1):c.*293A>T rs73559273
NM_000019.3(ACAT1):c.*507G>A rs12271846
NM_000019.3(ACAT1):c.*555A>G rs111376037
NM_000019.4(ACAT1):c.*179T>G rs114728153
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-15C>G rs113348145
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.-28T>A rs36216231
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000116.5(TAZ):c.*396C>T rs144283894
NM_000116.5(TAZ):c.*560G>A rs782808430
NM_000116.5(TAZ):c.-88G>C rs113130344
NM_000116.5(TAZ):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.542-20C>T rs373841640
NM_000116.5(TAZ):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAZ):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAZ):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAZ):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_000191.2(HMGCL):c.-59A>C rs188188846
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000282.4(PCCA):c.*158dup rs140492017
NM_000282.4(PCCA):c.*57_*60del rs200007489
NM_000282.4(PCCA):c.-20G>A rs374941593
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
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.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.300+20G>T rs371217257
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000411.8(HLCS):c.*1206C>A rs73902720
NM_000411.8(HLCS):c.*1484A>G rs78926199
NM_000411.8(HLCS):c.*1589_*1592CAAA[2] rs201997019
NM_000411.8(HLCS):c.*259T>C rs73398122
NM_000411.8(HLCS):c.*40A>G rs77014096
NM_000411.8(HLCS):c.*521C>T rs9967991
NM_000411.8(HLCS):c.*547C>T rs116526486
NM_000411.8(HLCS):c.-393+11G>T rs557368288
NM_000411.8(HLCS):c.1179+7del rs140568778
NM_000411.8(HLCS):c.126G>T (p.Glu42Asp) rs61732504
NM_000411.8(HLCS):c.1672G>A (p.Glu558Lys) rs149736764
NM_000411.8(HLCS):c.1920C>T (p.Val640=) rs61732507
NM_000411.8(HLCS):c.286G>A (p.Val96Ile) rs61732502
NM_000411.8(HLCS):c.834C>T (p.Ser278=) rs1065758
NM_000532.5(PCCB):c.-34G>A rs372649775
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.183+7C>G rs1039491317
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110
NM_001008216.2(GALE):c.-77+311C>T rs113324056
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.-38A>G rs45527139
NM_001017989.3(OPA3):c.143-16877G>A rs74253369
NM_001017989.3(OPA3):c.143-16973A>G rs67373144
NM_001017989.3(OPA3):c.143-17043G>A rs112948303
NM_001017989.3(OPA3):c.143-17291G>A rs142898530
NM_001017989.3(OPA3):c.143-17616A>G rs76825983
NM_001017989.3(OPA3):c.143-17664G>A rs151030695
NM_001017989.3(OPA3):c.143-17764A>C rs114655581
NM_001017989.3(OPA3):c.143-17783T>C rs74689727
NM_001017989.3(OPA3):c.143-17850C>T rs139798464
NM_001017989.3(OPA3):c.143-17954_143-17953del rs142661638
NM_001017989.3(OPA3):c.143-18114G>A rs190885103
NM_001017989.3(OPA3):c.143-18153G>A rs116705343
NM_001017989.3(OPA3):c.143-18275G>A rs550679720
NM_001017989.3(OPA3):c.143-18533C>T rs117230006
NM_001017989.3(OPA3):c.143-19109G>A rs544881797
NM_001017989.3(OPA3):c.143-19264C>T rs114917731
NM_001017989.3(OPA3):c.143-19386G>A rs11669246
NM_001017989.3(OPA3):c.143-20086C>T rs147972697
NM_001017989.3(OPA3):c.143-20180A>G rs79660166
NM_001017989.3(OPA3):c.143-20184G>A rs62109650
NM_001017989.3(OPA3):c.143-20336G>A rs73568973
NM_001017989.3(OPA3):c.143-20527G>T rs112899014
NM_001017989.3(OPA3):c.143-20715TCTTT[2] rs373580645
NM_001017989.3(OPA3):c.143-20836C>T rs73568980
NM_001017989.3(OPA3):c.143-20846G>A rs79317386
NM_001017989.3(OPA3):c.143-20941C>T rs569595277
NM_001017989.3(OPA3):c.143-21020G>A rs73568982
NM_001017989.3(OPA3):c.143-21362C>G rs148705681
NM_001017989.3(OPA3):c.143-21540A>G rs565012397
NM_001017989.3(OPA3):c.143-21573G>A rs8106584
NM_001017989.3(OPA3):c.143-21589G>A rs115566341
NM_001017989.3(OPA3):c.143-21915_143-21914del rs532263532
NM_001017989.3(OPA3):c.143-21957A>T rs139606810
NM_001017989.3(OPA3):c.143-22050C>T rs144432336
NM_001017989.3(OPA3):c.143-22203T>C rs146599259
NM_001017989.3(OPA3):c.143-22222C>T rs74717111
NM_001017989.3(OPA3):c.143-22298C>T rs75401979
NM_001017989.3(OPA3):c.143-22416A>G rs144894771
NM_001017989.3(OPA3):c.143-22671C>T rs73568986
NM_001017989.3(OPA3):c.143-22718C>T rs12104391
NM_001017989.3(OPA3):c.143-22963C>A rs148228876
NM_001017989.3(OPA3):c.143-23420T>A rs150575877
NM_001017989.3(OPA3):c.143-23481T>C rs112654759
NM_001017989.3(OPA3):c.143-23636C>T rs116977551
NM_001017989.3(OPA3):c.143-23660G>T rs183851663
NM_001017989.3(OPA3):c.143-23696T>C rs73942919
NM_001017989.3(OPA3):c.143-23786G>A rs7246349
NM_001017989.3(OPA3):c.143-23978G>T rs540023428
NM_001017989.3(OPA3):c.143-24186G>A rs201574732
NM_001017989.3(OPA3):c.143-24231C>A rs1022155897
NM_001178014.1(PCCB):c.-37C>T rs145734157
NM_001330174.2(ACADSB):c.922+20_922+21del rs11307362
NM_001370658.1(BTD):c.-94C>T rs114567021
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.1456C>T (p.Leu486=) rs774018881
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001609.3(ACADSB):c.*1200A>T rs11248371
NM_001609.3(ACADSB):c.*2113G>A rs7922412
NM_001609.3(ACADSB):c.*2957T>A rs115456304
NM_001609.3(ACADSB):c.*4135G>A rs74159956
NM_001609.3(ACADSB):c.*497C>T rs12248648
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.3(ACADSB):c.-123G>A rs72839755
NM_001609.3(ACADSB):c.-87G>T rs150850221
NM_001609.3(ACADSB):c.-89G>T rs141443308
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001698.2(AUH):c.*107A>G rs75505223
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_002225.3(IVD):c.-39G>A rs114259808
NM_002225.3(IVD):c.-79C>G rs574064968
NM_002225.5(IVD):c.*14C>T rs8040294
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*195C>T rs77680513
NM_002225.5(IVD):c.*2285C>G rs114657778
NM_002225.5(IVD):c.*2912G>A rs11557072
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.*447C>G rs79191320
NM_002225.5(IVD):c.*596G>A rs115034694
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_014384.2(ACAD8):c.*277C>T rs75645586
NM_014384.2(ACAD8):c.*377C>T rs74738493
NM_014384.2(ACAD8):c.-67G>A rs112372624
NM_014384.2(ACAD8):c.1195+12C>T rs75333832
NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) rs35181923
NM_014384.2(ACAD8):c.380+7G>T rs1335335796
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_022132.5(MCCC2):c.*1573C>G rs112693079
NM_022132.5(MCCC2):c.*593G>T rs60069076
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.3(OPA3):c.-86G>A rs73570932
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482

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