List of variants in gene combination NEB, RIF1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)	rs7575451	0.64120
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)	rs4664475	0.55659
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)	rs1061305	0.40617
NM_001164508.2(NEB):c.25150+12G>A	rs4414676	0.07283
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)	rs13031275	0.03886
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)	rs41270201	0.01730
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)	rs35625617	0.01691
NM_001164508.2(NEB):c.24208-7C>T	rs113048349	0.00793
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)	rs193224180	0.00140
NM_001164508.2(NEB):c.23742+2T>C	rs545937015	0.00006
NM_001164508.2(NEB):c.23743-1G>C	rs797045098

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.