ClinVar Miner

List of variants reported as likely benign for Cone-rod dystrophy 13; Leber congenital amaurosis 6 by Invitae

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Total variants: 20
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.1078-9C>A rs371312060
NM_020366.3(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308
NM_020366.3(RPGRIP1):c.1295C>T (p.Ser432Phe) rs190985984
NM_020366.3(RPGRIP1):c.1608T>C (p.Tyr536=) rs371513311
NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703
NM_020366.3(RPGRIP1):c.1899C>T (p.His633=) rs759142742
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.2490C>T (p.Thr830=) rs748441119
NM_020366.3(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506
NM_020366.3(RPGRIP1):c.2599C>T (p.Arg867Trp) rs186803989
NM_020366.3(RPGRIP1):c.3171C>T (p.His1057=) rs201838837
NM_020366.3(RPGRIP1):c.3533-4A>G rs925349418
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.528G>A (p.Ser176=) rs375351235
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_020366.3(RPGRIP1):c.543G>A (p.Ala181=) rs774735061
NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) rs371762530
NM_020366.3(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641
NM_020366.3(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462

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