List of variants reported as likely pathogenic for PDE6A-related retinopathy

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	rs139444207	0.00015
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	rs146591309	0.00004
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)	rs373537826	0.00002
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)	rs759563967	0.00001
NM_000440.3(PDE6A):c.1097del (p.Asp366fs)	rs1581186849
NM_000440.3(PDE6A):c.1273C>T (p.Gln425Ter)
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)	rs121918578
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	rs754012367
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)	rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097
NM_000440.3(PDE6A):c.999-2A>G	rs1753232409

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