List of variants in gene PRPF31 reported as likely pathogenic by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)	rs868538598
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)	rs869312187
NM_015629.4(PRPF31):c.400del (p.Asp134fs)	rs878853331
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter)	rs878853335
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter)	rs878853334

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.