ClinVar Miner

List of variants in gene CUBN reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (1042):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
CUBN, IVS6, C-G
NM_001081.3(CUBN):c.3329+1G>T rs1205598688
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) rs137998687
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter)
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)

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.