List of variants reported as likely pathogenic for Cone-rod dystrophy 13; Leber congenital amaurosis 6 by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.218+1G>T	rs546692544	0.00004
NM_020366.4(RPGRIP1):c.1467+1G>A	rs1167313603	0.00001
NM_020366.4(RPGRIP1):c.86-1G>A	rs200968268	0.00001
NM_020366.4(RPGRIP1):c.931-2A>G	rs374188857	0.00001
NC_000014.8:g.(?_21766946)_(21770647_?)del
NC_000014.8:g.(?_21769105)_(21794352_?)dup
NC_000014.8:g.(?_21798388)_(21798566_?)dup
NC_000014.8:g.(?_21819243)_(21819375_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NM_020366.4(RPGRIP1):c.1763-2A>G
NM_020366.4(RPGRIP1):c.219-2A>G	rs1880999471
NM_020366.4(RPGRIP1):c.2216-1G>A	rs970696880
NM_020366.4(RPGRIP1):c.2367+1G>A	rs1882968821
NM_020366.4(RPGRIP1):c.3100-1G>A
NM_020366.4(RPGRIP1):c.3533-2A>G

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