ClinVar Miner

List of variants reported as not provided for adult Refsum disease

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.340-10A>G	rs267608255	0.00006
NM_000288.4(PEX7):c.-45C>T	rs267608252
NM_006214.4(PHYH):c.19G>A (p.Ala7Thr)	rs746485843

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