ClinVar Miner

List of variants studied for classic organic aciduria by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359

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