ClinVar Miner

List of variants studied for cone-rod dystrophy by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033

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