List of variants in gene CRB1 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 11

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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.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)	rs760544654	0.00002
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)	rs115352681
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)	rs2125303672
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	rs62636266
NM_201253.3(CRB1):c.20_23del (p.Asn7fs)	rs2125193925
NM_201253.3(CRB1):c.2812C>T (p.Gln938Ter)	rs1664775193
NM_201253.3(CRB1):c.2914G>T (p.Glu972Ter)	rs1665045248
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615

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