List of variants reported as uncertain significance for Familial X-linked hypophosphatemic vitamin D refractory rickets by Illumina Clinical Services Laboratory,Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 19

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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.-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.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.1655C>T (p.Ala552Val)	rs773244112
NM_000444.6(PHEX):c.2052C>T (p.Phe684=)	rs373674171
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met)	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

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