ClinVar Miner

List of variants in gene PDE4D reported as pathogenic for acrodysostosis 2 with or without hormone resistance

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)

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