ClinVar Miner

List of variants in gene PDE11A reported as uncertain significance for cerebellar hypoplasia-tapetoretinal degeneration syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr) rs138427178
NM_016953.4(PDE11A):c.1660del (p.Cys554fs) rs573163079

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