ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as benign for arthrogryposis syndrome

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.24580-81A>G rs4664455 0.65048
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001164508.2(NEB):c.21840+82A>G rs2288198 0.61992
NM_001164508.2(NEB):c.22162-108C>T rs2288196 0.59579
NM_001164508.2(NEB):c.22800+32C>T rs16830136 0.59551
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001164508.2(NEB):c.21522+78C>G rs60806638 0.55600
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001164508.2(NEB):c.24393+60A>C rs10497081 0.26227
NM_001164508.2(NEB):c.24874-47A>T rs2288193 0.26026
NM_001164508.2(NEB):c.25405-34T>C rs16830090 0.25362
NM_001164508.2(NEB):c.22161+18G>C rs6721666

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.