ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 6
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HGVS dbSNP
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.135_136del (p.Leu47fs) rs1602244774
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) rs915608304
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) rs1602244810
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770

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