ClinVar Miner

List of variants reported as pathogenic for 3-methylglutaconic aciduria by OMIM

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 51
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HGVS dbSNP
AMN, IVS3, A-G, -2
NC_012920.1:m.3243A>G rs199474657
NM_000116.5(TAZ):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAZ):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAZ):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAZ):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAZ):c.647-1G>C rs587776741
NM_000116.5(TAZ):c.718G>A (p.Gly240Arg) rs387907218
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001017989.3(OPA3):c.143-24276_143-24259del rs80356526
NM_001017989.3(OPA3):c.143-24456G>C rs80356523
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001698.2(AUH):c.263-2A>G rs730880311
NM_001698.2(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.2(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.2(AUH):c.80del (p.Ser27fs) rs730880310
NM_001698.2(AUH):c.895-1G>A rs730880309
NM_001698.2(AUH):c.943-2A>G rs730880312
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_013247.4(HTRA2):c.1211G>A (p.Arg404Gln) rs767006508
NM_013247.4(HTRA2):c.1316_1320del (p.Val439fs) rs1057519080
NM_013247.4(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer) rs1057519082
NM_013247.4(HTRA2):c.906+1G>C rs1057519081
NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) rs772296795
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_145261.4(DNAJC19):c.130-1G>C rs137854888
NM_145261.4(DNAJC19):c.300del (p.Ala101fs) rs587777224
TAZ, 1-BP DEL
TAZ, 1-BP INS, NT868
TAZ, 4-BP DEL, AGTG
TAZ, IVS1AS, A-G, -2
TAZ, IVS1DS, G-C, +5
TAZ, IVS2AS, G-A, -1
TAZ, IVS2AS, G-C, -1
TAZ, IVS3DS, G-A, +110

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