ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Natera, Inc.

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708

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