ClinVar Miner

List of variants reported as benign for cone dystrophy 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.1270-7A>G rs616522 0.73216
NM_006204.4(PDE6C):c.1935+10C>A rs1409332 0.43098
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550 0.36884
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228 0.23737
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149 0.07060
NM_006204.4(PDE6C):c.1270-9C>T rs11187564 0.05345
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) rs76999928 0.00210
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978

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