ClinVar Miner

List of variants in gene CRB1 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.849-35T>C rs1337167 0.82735
NM_201253.3(CRB1):c.71-12A>T rs12042179 0.33853
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) rs140428156 0.00036
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2118C>T (p.Asn706=) rs775275370 0.00002
NM_201253.3(CRB1):c.3834G>A (p.Gln1278=) rs1041984071 0.00001
NM_201253.3(CRB1):c.1071G>C (p.Leu357=)
NM_201253.3(CRB1):c.1655del (p.Gln551_Ser552insTer)
NM_201253.3(CRB1):c.1861A>G (p.Thr621Ala)
NM_201253.3(CRB1):c.2676+7A>T rs774387451
NM_201253.3(CRB1):c.2751A>T (p.Thr917=)
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
NM_201253.3(CRB1):c.483C>T (p.Ala161=) rs370907719
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.