ClinVar Miner

List of variants studied for peroxisomal disease by GenomeConnect - Brain Gene Registry

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_002979.5(SCP2):c.1234A>G (p.Ser412Gly) rs201094447 0.00048
NM_003630.3(PEX3):c.915C>A (p.Asp305Glu) rs201981448 0.00011

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