ClinVar Miner

List of variants in gene CRB2 studied for Focal segmental glomerulosclerosis 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173689.7(CRB2):c.38C>T (p.Ala13Val) rs199695001 0.00046
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) rs147412276 0.00045
NM_173689.7(CRB2):c.1600C>T (p.Arg534Trp) rs759002273 0.00006
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys) rs537738396 0.00006
NM_173689.7(CRB2):c.2741C>T (p.Ala914Val) rs1221877694 0.00003
NM_173689.7(CRB2):c.3190C>T (p.Pro1064Ser) rs868484209 0.00003
NM_173689.7(CRB2):c.3613G>A (p.Gly1205Ser) rs779586424 0.00003
NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys) rs202128397 0.00001
NM_173689.7(CRB2):c.2914C>T (p.Arg972Cys) rs1236510733 0.00001
NM_173689.7(CRB2):c.3214C>T (p.Arg1072Cys) rs770448714 0.00001
NM_173689.7(CRB2):c.3559A>C (p.Thr1187Pro) rs1554785663 0.00001
NC_000009.11:g.(126129637_126129851)_(126136200_126136857)del
NM_173689.7(CRB2):c.1151G>T (p.Cys384Phe) rs1198089043
NM_173689.7(CRB2):c.1827C>A (p.Cys609Ter) rs1388484958
NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser) rs879255250
NM_173689.7(CRB2):c.1886G>C (p.Cys629Ser) rs879255252
NM_173689.7(CRB2):c.2314C>G (p.Leu772Val) rs376152518
NM_173689.7(CRB2):c.2803G>C (p.Gly935Arg)
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_173689.7(CRB2):c.429C>T (p.Cys143=) rs2041924139
NM_173689.7(CRB2):c.47_53dup (p.Leu19fs) rs1588200023

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.