List of variants in gene DYSF reported as likely benign by Illumina Laboratory Services, Illumina

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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)	rs17718530	0.23571
NM_001130987.2(DYSF):c.6321+15C>T	rs2559082	0.19470
NM_001130987.2(DYSF):c.1276+11C>T	rs35982795	0.15096
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)	rs34603128	0.14353
NM_001130987.2(DYSF):c.888+11T>C	rs13428076	0.13574
NM_001130987.2(DYSF):c.951+4T>C	rs11903960	0.09951
NM_001130987.2(DYSF):c.1038C>T (p.His346=)	rs36122356	0.06463
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)	rs34671418	0.04349
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)	rs35721373	0.03282
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)	rs35392229	0.03244
NM_001130987.2(DYSF):c.1577-1635C>G	rs76402294	0.03029
NM_001130987.2(DYSF):c.*199T>G	rs13429381	0.02954
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)	rs34211915	0.02614
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)	rs34836829	0.02488
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)	rs13407355	0.02232
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)	rs2303607	0.02075
NM_001130987.2(DYSF):c.*53G>A	rs114777968	0.01775
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)	rs35984374	0.01679
NM_001130987.2(DYSF):c.3757-12C>T	rs114968209	0.00943
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)	rs115013641	0.00257
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)	rs116426399	0.00200
NM_001130987.2(DYSF):c.3403-10G>A	rs116733194	0.00168
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)	rs147950418	0.00094
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])	rs398123779
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)	rs61742872

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.