List of variants in gene REEP1 studied for neuronopathy, distal hereditary motor, type 5B

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001371279.1(REEP1):c.33-23A>C	rs1863059	0.52882
NM_001371279.1(REEP1):c.417+45T>C	rs12988844	0.39574
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	rs2276625	0.39011
NM_001371279.1(REEP1):c.105+26C>T	rs1863058	0.37197
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	rs377637314	0.00068
NM_001371279.1(REEP1):c.537C>T (p.Ser179=)	rs201564869	0.00005
NM_001164730.2(REEP1):c.40dup (p.Arg14fs)	rs2104562914
NM_001371279.1(REEP1):c.160T>G (p.Phe54Val)
NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys)	rs1677004351
NM_001371279.1(REEP1):c.206A>C (p.Lys69Thr)	rs1676462791
NM_001371279.1(REEP1):c.248del (p.Gly83fs)	rs2104244539
NM_001371279.1(REEP1):c.304-2A>G	rs387907242
NM_001371279.1(REEP1):c.67T>C (p.Ser23Pro)	rs2104394897
NM_001371279.1(REEP1):c.683A>C (p.Gln228Pro)

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.