List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.6(PHEX):c.119-1G>A	rs2146979490
NM_000444.6(PHEX):c.119-1G>C	rs2146979490
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro)	rs137853270
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	rs137853271
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr)	rs137853269
NM_000444.6(PHEX):c.436+6T>C	rs1556020485
NM_000444.6(PHEX):c.682_683del (p.Ser228fs)	rs1064793956
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter)	rs137853268
NM_000444.6(PHEX):c.849+1268G>T	rs919011936
PHEX, A-G, NT-429

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