ClinVar Miner

List of variants in gene EMD reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del) rs398123156
NM_000117.3(EMD):c.46_82+6del rs1557182198
NM_000117.3(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.682C>T (p.Gln228Ter)
NM_000117.3(EMD):c.703_704insA (p.Phe235fs) rs1557182708
NM_000117.3(EMD):c.82G>A (p.Gly28Arg) rs1064797380

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.