ClinVar Miner

List of variants reported as pathogenic for cone dystrophy 4 by 3billion

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521 0.00002
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409 0.00001
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_006204.4(PDE6C):c.2283+1G>T rs760343056
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871

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