List of variants in gene CRB1 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	rs267598278	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr)	rs776788104	0.00001
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)	rs878853370
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	rs369775002
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)	rs773233587
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu)	rs1553260517
NM_201253.3(CRB1):c.2220dup (p.Met741fs)	rs1553261468
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr)	rs1553249226
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)	rs910489135
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)	rs574162883
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615

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