ClinVar Miner

List of variants reported as benign for Peters plus syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_194318.4(B3GLCT):c.121-120G>C rs2147515 0.95735
NM_194318.4(B3GLCT):c.781-125G>C rs1028751 0.90446
NM_194318.4(B3GLCT):c.850+151A>G rs1409373 0.88627
NM_194318.4(B3GLCT):c.*1801A>G rs912604 0.67908
NM_194318.4(B3GLCT):c.*1836G>A rs912603 0.67779
NM_194318.4(B3GLCT):c.*2486T>C rs4057 0.66872
NM_194318.4(B3GLCT):c.*2336A>C rs13080 0.66864
NM_194318.4(B3GLCT):c.*2137T>C rs2056443 0.66166
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys) rs1041073 0.66142
NM_194318.4(B3GLCT):c.*2067A>G rs2056445 0.66105
NM_194318.4(B3GLCT):c.850+81G>A rs4065552 0.62176
NM_194318.4(B3GLCT):c.*2082G>T rs2056444 0.58519
NM_194318.4(B3GLCT):c.347+20C>G rs9542307 0.38493
NM_194318.4(B3GLCT):c.347+4C>T rs9564692 0.35942
NM_194318.4(B3GLCT):c.780+58A>G rs728930 0.19910
NM_194318.4(B3GLCT):c.*36A>G rs112937254 0.15709
NM_194318.4(B3GLCT):c.*1644A>T rs876540 0.10159
NM_194318.4(B3GLCT):c.*1693G>C rs17703938 0.05717
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02336
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=) rs35019745 0.01584
NM_194318.4(B3GLCT):c.*2188T>A rs60022887 0.00634
NM_194318.4(B3GLCT):c.*637A>G rs149604950 0.00605
NM_194318.4(B3GLCT):c.*1197A>T rs147350414 0.00601
NM_194318.4(B3GLCT):c.*1516A>G rs876539 0.00554
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_194318.4(B3GLCT):c.271-8T>C rs183322816 0.00199
NM_194318.4(B3GLCT):c.1329+6G>T rs200460848 0.00150
NM_194318.4(B3GLCT):c.1064+10C>T rs143013995 0.00131
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=) rs753313963 0.00116
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055
NM_194318.4(B3GLCT):c.*2101T>C rs80102047 0.00046
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe) rs114184584 0.00034
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) rs199794968 0.00022
NM_194318.4(B3GLCT):c.315A>G (p.Glu105=) rs200376294 0.00007
NM_194318.4(B3GLCT):c.71-9T>C rs569540121 0.00006
NM_194318.4(B3GLCT):c.*2446A>G rs9601137
NM_194318.4(B3GLCT):c.*29G>T rs1060709
NM_194318.4(B3GLCT):c.*889A>G rs2025729
NM_194318.4(B3GLCT):c.161-8dup rs757600274
NM_194318.4(B3GLCT):c.597-23del rs3215787
NM_194318.4(B3GLCT):c.71-5del rs398022187
NM_194318.4(B3GLCT):c.781-12del rs747597532
NM_194318.4(B3GLCT):c.781-34_781-31dup rs137981677

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.