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 (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr) rs1197317905
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu) rs747228733
NM_020166.5(MCCC1):c.370-16T>G rs1716772551

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