List of variants in gene CRB1 reported by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	rs62645749	0.00049
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	rs145141811	0.00035
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	rs137853137	0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)	rs1271816211	0.00001
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)	rs115352681
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)	rs1571523755
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter)	rs1571525390
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)	rs781705903
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del)	rs1571572235
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)	rs1571645627
NM_201253.3(CRB1):c.508T>C (p.Tyr170His)	rs1571848981
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752

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