List of variants reported as likely pathogenic for Cone-rod dystrophy 6; Leber congenital amaurosis 1 by Invitae

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)	rs61749673	0.00003
NM_000180.4(GUCY2D):c.1026+2T>C
NM_000180.4(GUCY2D):c.1567-1G>C	rs2151801050
NM_000180.4(GUCY2D):c.1749+1G>A	rs2151801563
NM_000180.4(GUCY2D):c.1750-12_1752del
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.2263+1G>A
NM_000180.4(GUCY2D):c.2264-1G>A
NM_000180.4(GUCY2D):c.2412+2T>C	rs2151803131
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala)	rs2151803362
NM_000180.4(GUCY2D):c.2576+1G>A
NM_000180.4(GUCY2D):c.2577-2A>G
NM_000180.4(GUCY2D):c.2769+1G>A
NM_000180.4(GUCY2D):c.2770-34_2925del
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)

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