ClinVar Miner

List of variants studied for cone dystrophy 4 by Mendelics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter) rs1589705946

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