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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 90

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HGVS	dbSNP	gnomAD frequency
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)	rs200212229	0.00012
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)	rs774722200	0.00004
NM_001698.3(AUH):c.824C>T (p.Ala275Val)	rs748318386	0.00004
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter)	rs374473067	0.00004
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	rs200203460	0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)	rs200032855	0.00003
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)	rs121434636	0.00003
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)	rs529232938	0.00002
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter)	rs774185980	0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter)	rs780554501	0.00001
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter)	rs758745099	0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)	rs797045105	0.00001
NM_145261.4(DNAJC19):c.130-1G>C	rs137854888	0.00001
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)	rs1560040369	0.00001
NC_000003.11:g.(?_180332709)_(180707390_?)del
NC_000003.11:g.(?_180707368)_(180707390_?)del
NC_000006.11:g.(?_158532398)_(162868359_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000009.12:g.91220993dup	rs781142774
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_72004411)_(72006712_?)del
NC_000011.9:g.(?_72145096)_(72145518_?)del
NC_000011.9:g.(?_72145398)_(72145517_?)del
NC_000011.9:g.(?_72145398)_(72150823_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153647872)_(153650075_?)del
NM_000116.5(TAFAZZIN):c.109+5G>A	rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G	rs1603376833
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)	rs2148186224
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)	rs1557191170
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)	rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)	rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)	rs1060500044
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)	rs2148191858
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)	rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)	rs1603377945
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)	rs794729167
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)	rs132630277
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)	rs1085307797
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)	rs1603381860
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)	rs387907218
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)
NM_001258392.3(CLPB):c.1167+5G>T	rs1565424666
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)	rs1949512456
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)	rs368496010
NM_001258392.3(CLPB):c.278dup (p.Pro94fs)
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)	rs1856508068
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)	rs777202372
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
NM_001698.3(AUH):c.197del (p.Gly66fs)	rs1219516037
NM_001698.3(AUH):c.39dup (p.Ser14fs)
NM_001698.3(AUH):c.419-2A>G
NM_001698.3(AUH):c.471del (p.Phe157fs)
NM_001698.3(AUH):c.516dup (p.Val173fs)
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C	rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC	rs1969382362
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	rs80356525
NM_030813.6(CLPB):c.654dup (p.Gln219fs)	rs1951072912
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs)	rs780275814
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
NM_032861.4(SERAC1):c.1403+1G>A	rs1131690799
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs)	rs886041750
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter)	rs1383515185
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)	rs1715007577
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)	rs145786060
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)	rs2108509666

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