ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.9:g.(?_70895466)_(70895607_?)del
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000011.10:g.(?_108147260)_(108147400_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.10:g.(?_40416068)_(40418273_?)del
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89167111_89178323del
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000019.10:g.(?_45553504)_(45553921_?)del
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.64_72+10del
NM_000019.4(ACAT1):c.940+2T>C
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.236_238+5del
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.528_541+7del
NM_000116.5(TAFAZZIN):c.542-2A>G
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)
NM_000191.3(HMGCL):c.144+1G>A
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230
NM_000191.3(HMGCL):c.61-1G>C
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.717-2A>G
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000532.5(PCCB):c.1198+1G>A
NM_000532.5(PCCB):c.1198+1_1198+11del
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
NM_001243279.3(ACSF3):c.1126+1G>A
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)
NM_001243279.3(ACSF3):c.978-1G>A
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2237-56_2255del
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001370658.1(BTD):c.-17+2T>C
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001609.4(ACADSB):c.1128+1G>A
NM_001609.4(ACADSB):c.1128+1_1128+3del
NM_001698.2(AUH):c.599-2A>G rs1587799880
NM_001698.3(AUH):c.656-2_656-1del
NM_001698.3(AUH):c.656-2del
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1138+1G>A
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.286+2T>C rs748026507
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.287-2A>C
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.457-2A>T
NM_002225.5(IVD):c.961-2A>T
NM_014362.4(HIBCH):c.439-2A>G
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015702.3(MMADHC):c.10-1G>C
NM_015702.3(MMADHC):c.154+1G>A rs1385597423
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046
NM_020166.5(MCCC1):c.1268-1G>A rs1191868168
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1732-1G>T
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)
NM_020166.5(MCCC1):c.639+5G>T
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.89+1G>C rs771730236
NM_020166.5(MCCC1):c.90-1G>C
NM_022132.5(MCCC2):c.1149+1G>A
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
NM_022132.5(MCCC2):c.1574+1G>A rs730880265
NM_022132.5(MCCC2):c.1574+1G>T
NM_022132.5(MCCC2):c.281+1G>T rs1580273474
NM_022132.5(MCCC2):c.282-9_285del
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_025136.4(OPA3):c.1A>G (p.Met1Val)
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
NM_052845.4(MMAB):c.290+1G>A
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.820-1G>C

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