ClinVar Miner

List of variants studied for classic organic aciduria by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) rs1712230544
NM_025136.4(OPA3):c.176G>C (p.Arg59Pro)

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