List of variants in gene DYSF reported as uncertain significance by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	rs201049092	0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)	rs777785781	0.00001
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val)	rs1573811118
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg)	rs1573929182
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)	rs767788624
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr)	rs1572921644
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)	rs1336670524
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)	rs1573176526
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)	rs1573658295
NM_001130987.2(DYSF):c.951+3_951+4del	rs1573663867

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.