ClinVar Miner

List of variants reported as likely benign for adult Refsum disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	rs113268723	0.00376
NM_006214.4(PHYH):c.126A>G (p.Gln42=)	rs150631501	0.00371
NM_006214.4(PHYH):c.846C>T (p.Phe282=)	rs373839944

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