List of variants in gene PHYH reported as likely pathogenic for not provided

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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.512G>A (p.Arg171His)	rs752028596	0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln)	rs104894174	0.00001
NM_006214.4(PHYH):c.134+1G>A
NM_006214.4(PHYH):c.246-1G>C
NM_006214.4(PHYH):c.415-3_419del
NM_006214.4(PHYH):c.497-1G>A	rs761927136
NM_006214.4(PHYH):c.529G>A (p.Asp177Asn)	rs2131640861
NM_006214.4(PHYH):c.678+2T>C
NM_006214.4(PHYH):c.679-1G>T
NM_006214.4(PHYH):c.679-2A>C
NM_006214.4(PHYH):c.679-2A>T
NM_006214.4(PHYH):c.679-2del
NM_006214.4(PHYH):c.76-2A>G	rs2131661125
NM_006214.4(PHYH):c.829-1G>A	rs2131630730

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