ClinVar Miner

List of variants in gene PHEX reported as likely pathogenic for Familial X-linked hypophosphatemic vitamin D refractory rickets

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Gene type:
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Total variants: 17
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NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) rs1602303865
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) rs915608304
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A rs1602363550
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) rs1602244810
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) rs137853269
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) rs1602273900
NM_000444.6(PHEX):c.436+5G>T rs1602273945
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.645_652del (p.Asn216fs) rs0
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460

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