List of variants in gene CRB1 reported as likely pathogenic for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)	rs1271816211	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)	rs62636271	0.00001
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	rs369775002
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)	rs1266363944
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	rs62636266
NM_201253.3(CRB1):c.2220dup (p.Met741fs)	rs1553261468
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)	rs1085307972
NM_201253.3(CRB1):c.2843-1G>T	rs878853368
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)	rs1571848744
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752
NM_201253.3(CRB1):c.71-2A>G	rs1383691293

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