List of variants in gene CRB1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
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.3991C>T (p.Arg1331Cys)	rs760544654	0.00002
NM_201253.3(CRB1):c.1149dup (p.Ile384fs)	rs1660517678	0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)	rs765676754	0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)	rs752559648	0.00001
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	rs62636266
NM_201253.3(CRB1):c.2118del (p.Cys707fs)	rs2125472156
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)	rs745348555
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)	rs1366609497
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)	rs1665487563
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615
NM_201253.3(CRB1):c.506del (p.Gly169fs)	rs1167867158
NM_201253.3(CRB1):c.57dup (p.Ile20fs)	rs1343680080
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752
NM_201253.3(CRB1):c.63C>A (p.Tyr21Ter)	rs1654722291

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