ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile) rs766990714 0.00001
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818

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