ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.4(ACADSB):c.1228+1G>A
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_002225.5(IVD):c.-9A>T rs373594717
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.89+1G>C rs771730236
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164

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