ClinVar Miner

List of variants in gene EFHC1 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.*3144T>A rs3789772 0.70161
NM_018100.4(EFHC1):c.*3406T>C rs6919266 0.36710
NM_018100.4(EFHC1):c.*2972C>G rs9367485 0.18894
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*1490C>A rs2397092 0.18321
NM_018100.4(EFHC1):c.*2419A>G rs9474228 0.17191
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.*3192G>A rs3789771 0.08613
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_018100.4(EFHC1):c.*2164G>A rs59722297 0.02831
NM_018100.4(EFHC1):c.*233T>A rs538486876 0.00193
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025AT[9] rs59794069
NM_018100.4(EFHC1):c.*1325dup rs35994917
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506

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.