ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_182961.4(SYNE1):c.17203-48G>A rs4112833 0.85499
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_182961.4(SYNE1):c.12352-39A>G rs9479298 0.79639
NM_182961.4(SYNE1):c.1463+24G>T rs4523096 0.79102
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_182961.4(SYNE1):c.19471-18C>T rs6557210 0.64435
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62436
NM_182961.4(SYNE1):c.11734-5T>G rs9478320 0.59305
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_182961.4(SYNE1):c.11580+15C>T rs6908392 0.57442
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52553
NM_182961.4(SYNE1):c.3505-39A>C rs502268 0.51916
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_182961.4(SYNE1):c.9147-13G>A rs214955 0.50013
NM_182961.4(SYNE1):c.12795-12A>G rs9478314 0.48867
NM_182961.4(SYNE1):c.8177+20A>T rs214943 0.48837
NM_182961.4(SYNE1):c.17346+38C>T rs9371581 0.48105
NM_182961.4(SYNE1):c.7713-49G>A rs214944 0.47302
NM_182961.4(SYNE1):c.9651+47C>T rs1873176 0.45478
NM_182961.4(SYNE1):c.7029+45T>C rs177330 0.43899
NM_182961.4(SYNE1):c.1351-24A>T rs4331993 0.39021
NM_182961.4(SYNE1):c.130-25C>T rs2141152 0.26785
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_182961.4(SYNE1):c.17202+24G>A rs12662994 0.09437
NM_182961.4(SYNE1):c.11254-31T>G rs6932325
NM_182961.4(SYNE1):c.11581-15dup rs5880967
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579

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.