List of variants in gene PHYH reported as pathogenic for adult Refsum disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006214.4(PHYH):c.135-2A>G	rs201578674	0.00017
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_006214.4(PHYH):c.497-2A>G	rs144169488	0.00004
NM_006214.4(PHYH):c.375_376del (p.Glu126fs)	rs1435262914	0.00003
NM_006214.4(PHYH):c.135-1G>C	rs1057272016	0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)	rs104894173	0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln)	rs104894174	0.00001
NM_006214.4(PHYH):c.164del (p.Leu55fs)	rs730882058
NM_006214.4(PHYH):c.457del (p.Ala153fs)
NM_006214.4(PHYH):c.526C>A (p.Gln176Lys)	rs28939672
NM_006214.4(PHYH):c.574_576dup (p.Ala192_Trp193insAla)	rs2131640741
NM_006214.4(PHYH):c.679-1dup	rs767403321
NM_006214.4(PHYH):c.805A>C (p.Asn269His)	rs104894179

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