ClinVar Miner

List of variants in gene PDE6H reported as benign for blindness (disorder)

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006205.3(PDE6H):c.-59G>C rs11056264 0.10957
NM_006205.3(PDE6H):c.195A>G (p.Pro65=) rs2230872 0.08891
NM_006205.3(PDE6H):c.*301A>G rs77796036 0.01482
NM_006205.3(PDE6H):c.-73C>A rs188351941 0.00560
NM_006205.3(PDE6H):c.*319T>C rs3748304 0.00160

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