ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported as uncertain significance for X-linked dominant disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000444.6(PHEX):c.*227C>G rs765787001
NM_000444.6(PHEX):c.*250A>C rs1057515844
NM_000444.6(PHEX):c.*339A>G rs773553690
NM_000444.6(PHEX):c.*360A>C rs1012718966
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171

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