ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1966-1G>T rs1064795147
NM_000444.6(PHEX):c.733-1G>C rs886041223

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