ClinVar Miner

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

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.288A>G (p.Glu96=) rs112836831 0.00980
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493 0.00746
NM_000444.6(PHEX):c.1383G>A (p.Thr461=) rs77710864 0.00397
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000444.6(PHEX):c.249C>T (p.Phe83=) rs145224279 0.00048
NM_000444.6(PHEX):c.996C>T (p.Asp332=) rs139749399 0.00034
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000444.6(PHEX):c.1437A>G (p.Pro479=) rs141436752 0.00026
NM_000444.6(PHEX):c.1483-7T>C rs369175587 0.00020
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267 0.00019
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser) rs760556268 0.00010
NM_000444.6(PHEX):c.1587-16G>T rs374593246 0.00003
NM_000444.6(PHEX):c.1008C>T (p.Ser336=) rs775973349 0.00001
NM_000444.6(PHEX):c.420A>G (p.Ser140=) rs1158378032
NM_000444.6(PHEX):c.440C>T (p.Ala147Val) rs749081778
NM_000444.6(PHEX):c.441G>A (p.Ala147=) rs770726332
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553

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