List of variants in gene CRB1 reported as pathogenic by Laboratory of Genetics in Ophthalmology, Institut Imagine

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: 43

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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.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.2555T>C (p.Ile852Thr)	rs62636271	0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	rs62635656	0.00001
NM_201253.3(CRB1):c.1041del (p.Cys348fs)	rs1660507732
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	rs62645754
NM_201253.3(CRB1):c.1148_1149dup (p.Ile384fs)	rs1660517312
NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter)	rs371114178
NM_201253.3(CRB1):c.1971del (p.Asn657fs)	rs1664343244
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)	rs28939720
NM_201253.3(CRB1):c.2243del (p.Pro748fs)	rs1664651786
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)	rs1664669402
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)	rs62636269
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)	rs1571540258
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	rs62645747
NM_201253.3(CRB1):c.2853dup (p.Ala952fs)	rs281865173
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)	rs143511261
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter)	rs1249210332
NM_201253.3(CRB1):c.3347del (p.Phe1116fs)	rs62636278
NM_201253.3(CRB1):c.3408del (p.Cys1137fs)	rs1665093194
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)	rs1571557864
NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter)	rs1665100553
NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer)	rs1665112963
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)	rs281865174
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152
NM_201253.3(CRB1):c.4005+1G>A	rs890453675
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)	rs281865175
NM_201253.3(CRB1):c.4214del (p.Leu1405fs)	rs1667270187
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.624T>A (p.Tyr208Ter)	rs1658697788
NM_201253.3(CRB1):c.653-1G>A	rs760287363
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)	rs1659642763
NM_201253.3(CRB1):c.798_799del (p.Ala267fs)	rs2125328494
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)	rs753224594

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