List of variants in gene CRB1 reported as pathogenic for not provided

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: 36

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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.1438T>C (p.Cys480Arg)	rs62636264	0.00007
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	rs62636273	0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	rs62636275	0.00003
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)	rs778627080	0.00002
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.1576C>T (p.Arg526Ter)	rs114342808	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.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.2118del (p.Cys707fs)	rs2125472156
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)	rs1433518605
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)	rs745348555
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)	rs62636260
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)	rs759662695
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.2983G>T (p.Glu995Ter)	rs62635655
NM_201253.3(CRB1):c.3144del (p.Ser1049fs)	rs1275965097
NM_201253.3(CRB1):c.3383del (p.Ile1128fs)	rs794727980
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)	rs1366609497
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)	rs1665487563
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)	rs281865175
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
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)	rs886043587

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