List of variants reported as benign for Peters plus syndrome by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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.1108G>A (p.Glu370Lys)	rs1041073	0.66142
NM_194318.4(B3GLCT):c.850+81G>A	rs4065552	0.62176
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.271-12T>C	rs117111131	0.01874
NM_194318.4(B3GLCT):c.*29G>T	rs1060709
NM_194318.4(B3GLCT):c.597-23del	rs3215787
NM_194318.4(B3GLCT):c.71-5del	rs398022187
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.