ClinVar Miner

List of variants reported as benign for peroxisomal disease by Clinical Biochemistry Laboratory, Health Services Laboratory

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.680+130C>T rs78178548 0.00508
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233

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