ClinVar Miner

List of variants in gene GGACT, PCCA studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000013.10:g.(?_101179919)_(101182701_?)del
NM_000282.4(PCCA):c.*115C>T rs41281122
NM_000282.4(PCCA):c.*116G>A rs886049929
NM_000282.4(PCCA):c.*158dup rs140492017
NM_000282.4(PCCA):c.*159T>G rs113356477
NM_000282.4(PCCA):c.*190C>G rs41281124
NM_000282.4(PCCA):c.*190C>T rs41281124
NM_000282.4(PCCA):c.*57_*60del rs200007489

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