ClinVar Miner

List of variants in gene combination NEB, RIF1 studied for Nemaline myopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_001271208.2(NEB):c.21898C>T (p.Arg7300Ter) rs750900690
NM_001271208.2(NEB):c.22264G>C (p.Asp7422His) rs770527289
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter) rs760200697

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.