ClinVar Miner

List of variants in gene EFHC1 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_018100.4(EFHC1):c.1493-34C>T rs77741653 0.00605
NM_018100.4(EFHC1):c.1137+31G>T rs115160207 0.00595
NM_018100.4(EFHC1):c.1279-57G>T rs115736914 0.00594
NM_018100.4(EFHC1):c.917-72G>A rs114196074 0.00594
NC_000006.12:g.52420101A>G rs150082340 0.00588
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760 0.00170
NC_000006.12:g.52420332G>T rs114013470 0.00080
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088 0.00036
NM_018100.4(EFHC1):c.873A>G (p.Leu291=) rs778432296 0.00002
NM_018100.4(EFHC1):c.*25A>T rs771508456 0.00001
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033 0.00001
NM_018100.4(EFHC1):c.*1025AT[17]
NM_018100.4(EFHC1):c.*1025AT[18]
NM_018100.4(EFHC1):c.*1025AT[24]
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.1852-48G>T rs60636755
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.723+106C>T rs190021570

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.