ClinVar Miner

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

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Total variants: 2
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NM_000444.6(PHEX):c.135_136del (p.Leu47fs) rs1602244774
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770

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