ClinVar Miner

List of variants in gene DYSF, LOC122787137 studied for Qualitative or quantitative defects of dysferlin

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001130987.2(DYSF):c.3939A>G (p.Thr1313=) rs763332737 0.00005
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly) rs535831045 0.00004
NM_001130987.2(DYSF):c.3928-8T>C rs765774189 0.00002
NM_001130987.2(DYSF):c.3928-12G>C rs1322835903 0.00001
NM_001130987.2(DYSF):c.3928-15A>C rs370454686 0.00001
NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter) rs1324430830 0.00001
NM_001130987.2(DYSF):c.3928-10T>C rs1558589946
NM_001130987.2(DYSF):c.3928-19T>A
NM_001130987.2(DYSF):c.3928-2A>G rs2152861747
NM_001130987.2(DYSF):c.3934G>A (p.Glu1312Lys)
NM_001130987.2(DYSF):c.3935A>G (p.Glu1312Gly) rs2093576892
NM_001130987.2(DYSF):c.3948C>T (p.Ile1316=) rs2093577208
NM_001130987.2(DYSF):c.3957+10G>A
NM_001130987.2(DYSF):c.3957+11C>T
NM_001130987.2(DYSF):c.3957+12G>A
NM_001130987.2(DYSF):c.3957+14G>A
NM_001130987.2(DYSF):c.3957+15G>A
NM_001130987.2(DYSF):c.3957+1G>A
NM_001130987.2(DYSF):c.3957+20dup
NM_001130987.2(DYSF):c.3957+2T>G rs1553377764
NM_001130987.2(DYSF):c.3957+7T>C rs2152861837
NM_001130987.2(DYSF):c.3957+8G>T
NM_001130987.2(DYSF):c.3957+9G>A rs794727590
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=) rs781449138

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.