ClinVar Miner

List of variants studied for adult Refsum disease by Mendelics

Included ClinVar conditions (5):

Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B
Refsum disease, adult, 1
Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)	rs28938169	0.15001

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