ClinVar Miner

List of variants studied for cone-rod dystrophy by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173

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