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: 57
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HGVS dbSNP
NC_000010.10:g.(?_124793872)_(124800895_?)del
NC_000011.9:g.(?_108017987)_(108018127_?)del
NC_000012.11:g.(?_109998825)_(110003001_?)del
NC_000013.10:g.(?_100953714)_(101077985_?)del
NC_000015.9:g.(?_40705170)_(40710482_?)del
NM_000116.5(TAZ):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAZ):c.238+2_238+9del
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) rs1164271240
NM_000282.4(PCCA):c.2041-1G>T
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
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.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_001081.3(CUBN):c.348+2T>C
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
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.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001698.2(AUH):c.599-2A>G
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.4(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_015506.3(MMACHC):c.382_384TAC[2] (p.Tyr130del) rs796051998
NM_015702.3(MMADHC):c.154+1G>A
NM_020166.5(MCCC1):c.1268-1G>A
NM_020166.5(MCCC1):c.1595-1G>C
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.640-2A>G rs772395858
NM_020166.5(MCCC1):c.89+1G>C
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.281+1G>T
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_030943.3(AMN):c.760+1G>A rs1555381485
NM_030943.3(AMN):c.844-1G>C
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
NM_052845.4(MMAB):c.519+1G>A
NM_052845.4(MMAB):c.577_578GA[2] (p.Arg194fs)
NM_052845.4(MMAB):c.644+1G>A
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980

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