ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850

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