ClinVar Miner

List of variants reported by Centre for molecular medicine, Karolinska Institutet

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017637.6(BNC2):c.2478A>G (p.Leu826=) rs3739715 0.09581
NM_017637.6(BNC2):c.1545A>G (p.Ser515=) rs117470554 0.04304
NM_017637.6(BNC2):c.84A>T (p.Ala28=) rs76485966 0.02974
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val) rs117452684 0.01981
NM_001300.6(KLF6):c.800+21C>T rs111743412 0.01548
NM_001300.6(KLF6):c.*62G>A rs112418040 0.01542
NM_017637.6(BNC2):c.936C>T (p.Phe312=) rs77464990 0.01212
NM_017637.6(BNC2):c.2920A>G (p.Ile974Val) rs35005898 0.00945
NM_017637.6(BNC2):c.1240C>G (p.Leu414Val) rs148873573 0.00784
NM_001300.6(KLF6):c.603G>A (p.Arg201=) rs112847236 0.00761
NM_017637.6(BNC2):c.1947C>T (p.Thr649=) rs62540608 0.00467
NM_017637.6(BNC2):c.1868C>A (p.Pro623His) rs114596065 0.00435
NM_017637.6(BNC2):c.2789A>G (p.Asp930Gly) rs41268965 0.00269
NM_001818.5(AKR1C4):c.447+9T>G rs201441444 0.00253
NM_017637.6(BNC2):c.519C>T (p.Ser173=) rs149019822 0.00149
NM_017637.6(BNC2):c.171G>T (p.Gln57His) rs145011045 0.00058
NM_001300.6(KLF6):c.496C>T (p.Pro166Ser) rs142749289 0.00026
NM_001300.6(KLF6):c.800+34G>A rs367807577 0.00010
NM_017637.6(BNC2):c.2202C>T (p.Gly734=) rs376030025 0.00006
NM_017637.6(BNC2):c.501C>T (p.Val167=) rs143821778 0.00002
NM_017637.6(BNC2):c.1239T>C (p.Asp413=) rs483353011 0.00001
NM_001300.6(KLF6):c.*46A>T rs483352821
NM_003739.6(AKR1C3):c.643G>A (p.Ala215Thr) rs483352820
NM_017637.6(BNC2):c.1002A>G (p.Pro334=) rs483353010
NM_017637.6(BNC2):c.1738G>A (p.Gly580Arg) rs483353012
NM_017637.6(BNC2):c.2051C>T (p.Pro684Leu) rs138187836
NM_017637.6(BNC2):c.2739C>T (p.Arg913=) rs189895388
NM_017637.6(BNC2):c.916C>G (p.Pro306Ala) rs114964332

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.