ClinVar Miner

List of variants in gene RBCK1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) rs780854072
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe) rs1555787599
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235
NM_031229.4(RBCK1):c.121_122del (p.Leu41fs) rs727503763
NM_031229.4(RBCK1):c.1308+1G>T rs1555787903
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter) rs1568554654
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)
NM_031229.4(RBCK1):c.518del (p.Pro173fs)
NM_031229.4(RBCK1):c.553C>T (p.Gln185Ter) rs727503762
NM_031229.4(RBCK1):c.582+1G>C rs1017046170
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)
NM_031229.4(RBCK1):c.663del (p.Glu222fs)
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) rs730880329
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter) rs727503765
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter) rs587777561
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)

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.