ClinVar Miner

List of variants in gene PHEX reported as uncertain significance for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs)
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960
NM_000444.6(PHEX):c.1079+5G>A rs1556026071
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437
NM_000444.6(PHEX):c.1586+14A>T
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500
NM_000444.6(PHEX):c.690C>T (p.Ala230=)
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976

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