ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1174-10_1174-1del
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter)
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.188-2A>C
NM_000444.6(PHEX):c.1966-1G>T rs1064795147
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2148-10C>A
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.292dup (p.Met98fs)
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.846del (p.Glu283fs)
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.887T>C (p.Met296Thr)

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