List of variants reported as pathogenic for Familial X-linked hypophosphatemic vitamin D refractory rickets by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1080-1G>A	rs886041695
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	rs875989883
NM_000444.6(PHEX):c.208_212del (p.Val70fs)	rs1927568587
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	rs886041227
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter)	rs1556020770
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	rs866429868

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