ClinVar Miner

List of variants in gene EML1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004434.3(EML1):c.384-124T>C rs1191118 0.89618
NM_004434.3(EML1):c.2191+102T>C rs2295787 0.77340
NM_004434.3(EML1):c.1666T>C (p.Ser556Pro) rs2250718 0.69003
NM_004434.3(EML1):c.678-146T>C rs17652784 0.59172
NM_004434.3(EML1):c.828-167T>C rs3736815 0.55826
NM_004434.3(EML1):c.678-228A>C rs13379198 0.55783
NM_004434.3(EML1):c.827+41A>G rs2273706 0.55658
NM_004434.3(EML1):c.827+40G>C rs2273707 0.51376
NM_004434.3(EML1):c.2096-87A>G rs2295788 0.40882
NM_004434.3(EML1):c.1820+46A>C rs2273704 0.37252
NM_004434.3(EML1):c.2095+157G>T rs4900448 0.33988
NM_004434.3(EML1):c.384-3392A>G rs1191121 0.31575
NM_004434.3(EML1):c.548-111A>G rs1191098 0.30749
NM_004434.3(EML1):c.677+210C>T rs975252 0.30311
NM_004434.3(EML1):c.1240-77C>T rs10140426 0.29473
NM_004434.3(EML1):c.678-216T>C rs1191091 0.29163
NM_004434.3(EML1):c.547+79C>T rs1191100 0.28033
NM_004434.3(EML1):c.2095+144G>A rs4900447 0.27852
NM_004434.3(EML1):c.276T>C (p.Pro92=) rs11160553 0.27063
NM_004434.3(EML1):c.251-196G>A rs12432209 0.26497
NM_004434.3(EML1):c.1495-226G>A rs113953439 0.24421
NM_004434.3(EML1):c.250+100G>A rs4905905 0.22804
NM_004434.3(EML1):c.250+4G>A rs72708401 0.22471
NM_004434.3(EML1):c.1753-156C>G rs3818279 0.20962
NM_004434.3(EML1):c.1340-211A>G rs12435250 0.18120
NM_004434.3(EML1):c.1130C>T (p.Ala377Val) rs34198557 0.17504
NM_004434.3(EML1):c.1495-120A>T rs28539641 0.14180
NM_004434.3(EML1):c.1339+37G>A rs2145859 0.10185
NM_004434.3(EML1):c.384-3388A>C rs7152170 0.06364
NM_004434.3(EML1):c.518+96G>C rs11846850 0.05494
NM_004434.3(EML1):c.1104+113G>A rs74084639 0.03591
NM_004434.3(EML1):c.654C>G (p.Thr218=) rs7144394 0.03203
NM_004434.3(EML1):c.384-172C>T rs74087914 0.02300
NM_004434.3(EML1):c.356A>G (p.Lys119Arg) rs199650308 0.00019
NM_004434.3(EML1):c.1145C>T (p.Thr382Met)
NM_004434.3(EML1):c.1753-86TG[2] rs75719251
NM_004434.3(EML1):c.727A>G (p.Thr243Ala) rs886037936

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.