ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000014.9:g.21302518del
NM_001377523.1(RPGRIP1):c.145C>T (p.Gln49Ter)
NM_001377523.1(RPGRIP1):c.1465dup (p.Arg489fs)
NM_001377523.1(RPGRIP1):c.759del (p.Tyr255fs)
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766
NM_020366.3(RPGRIP1):c.1892A>G (p.His631Arg)
NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701
NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs)
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402

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