ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491

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