ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 12; Leber congenital amaurosis 8

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Total variants: 24
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HGVS dbSNP
NC_000001.10:g.(?_197297542)_(197298143_?)del
NC_000001.10:g.(?_197325951)_(197326153_?)del
NM_201253.3(CRB1):c.1172-1G>T
NM_201253.3(CRB1):c.1172-2A>G
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser)
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn)
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)
NM_201253.3(CRB1):c.2128+1G>C
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu)
NM_201253.3(CRB1):c.2843-1G>T
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg)
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
NM_201253.3(CRB1):c.4006-1G>C
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.652+3_652+6del
NM_201253.3(CRB1):c.70+2T>A
NM_201253.3(CRB1):c.71-2A>G
NM_201253.3(CRB1):c.849-2A>G

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