ClinVar Miner

List of variants in gene EFTUD2 reported as pathogenic for acrofacial dysostosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 17q21.31(chr17:42929777-42937911)
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.106-1G>C rs2051181820
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004247.4(EFTUD2):c.1149+1G>C rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004247.4(EFTUD2):c.1331del (p.Gly444fs) rs2050697632
NM_004247.4(EFTUD2):c.1414-2A>G rs1597797917
NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) rs1555565774
NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)
NM_004247.4(EFTUD2):c.1719+1G>A rs2145460853
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) rs1057520673
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) rs879253725
NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs) rs1135401812
NM_004247.4(EFTUD2):c.1904dup (p.Tyr636fs)
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) rs387906879
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) rs1555564341
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter) rs2145438293
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) rs879253726
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) rs879253727
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004247.4(EFTUD2):c.2562-2del rs2145431661
NM_004247.4(EFTUD2):c.2600del (p.Pro867fs) rs2050473924
NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)
NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)
NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs) rs886039349
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2823+1del rs879253728
NM_004247.4(EFTUD2):c.378del (p.Glu127fs) rs2051113996
NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)
NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) rs397515431
NM_004247.4(EFTUD2):c.702G>T (p.Gly234=) rs2051032338
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004247.4(EFTUD2):c.882del (p.Asp295fs) rs1597807512

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.