List of variants in gene combination PHEX, PTCHD1 reported as uncertain significance for Familial X-linked hypophosphatemic vitamin D refractory rickets

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: 8

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HGVS	dbSNP
NM_000444.6(PHEX):c.*227C>G	rs765787001
NM_000444.6(PHEX):c.*250A>C	rs1057515844
NM_000444.6(PHEX):c.*339A>G	rs773553690
NM_000444.6(PHEX):c.*360A>C	rs1012718966
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val)	rs773244112
NM_000444.6(PHEX):c.1768+173A>G	rs1602402549
NM_000444.6(PHEX):c.2052C>T (p.Phe684=)	rs373674171
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met)	rs0

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