ClinVar Miner

List of variants reported as benign for X-linked Emery-Dreifuss muscular dystrophy by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00375
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00298
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000117.3(EMD):c.432A>G (p.Glu144=) rs377125466 0.00014
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00013
NM_000117.3(EMD):c.400-14A>G rs781916367 0.00007
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000117.3(EMD):c.746A>G (p.Glu249Gly) rs781947413 0.00004
NM_000117.3(EMD):c.400-20G>A rs782354948 0.00003
NM_000117.3(EMD):c.177T>C (p.Tyr59=) rs782552135 0.00002
NM_000117.3(EMD):c.449+11G>C rs782616042 0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00001
NM_000117.3(EMD):c.187+20G>A rs782622770
NM_000117.3(EMD):c.266-9dup rs1557182427
NM_000117.3(EMD):c.400-13CT[2] rs1427015192
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489

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.