ClinVar Miner

List of variants in gene PDE6A studied for Retinitis Pigmentosa, Recessive

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.*2068del rs57328066 0.40904
NM_000440.3(PDE6A):c.*2637_*2641del rs569137634 0.00046
NM_000440.3(PDE6A):c.-114T>C rs886060218 0.00001
NM_000440.3(PDE6A):c.*2077_*2078dup rs764134058
NM_000440.3(PDE6A):c.*2079_*2080del rs886060208
NM_000440.3(PDE6A):c.*2079del rs886060209
NM_000440.3(PDE6A):c.*2098CT[2] rs886060207
NM_000440.3(PDE6A):c.*241del rs36043437
NM_000440.3(PDE6A):c.*241dup rs36043437
NM_000440.3(PDE6A):c.*257del rs886060214
NM_000440.3(PDE6A):c.*828dup rs886060213

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