List of variants in gene PHEX 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: 17

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HGVS	dbSNP
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs)	rs0
NM_000444.6(PHEX):c.-10G>T	rs1057515841
NM_000444.6(PHEX):c.-126C>A	rs0
NM_000444.6(PHEX):c.1025G>A (p.Arg342His)	rs376461141
NM_000444.6(PHEX):c.1026C>T (p.Arg342=)	rs746847960
NM_000444.6(PHEX):c.1079+5G>A	rs1556026071
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val)	rs936722686
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)	rs147859619
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu)	rs145778165
NM_000444.6(PHEX):c.1374T>C (p.Asp458=)	rs370746437
NM_000444.6(PHEX):c.1586+14A>T	rs0
NM_000444.6(PHEX):c.285C>G (p.Pro95=)	rs1057515842
NM_000444.6(PHEX):c.444T>C (p.Ile148=)	rs145881500
NM_000444.6(PHEX):c.690C>T (p.Ala230=)	rs0
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn)	rs1057515843
NM_000444.6(PHEX):c.957G>A (p.Lys319=)	rs373261521
NM_000444.6(PHEX):c.961G>T (p.Val321Phe)	rs1556025976

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