ClinVar Miner

List of variants in gene EFTUD2 reported as uncertain significance for mandibulofacial dysostosis-microcephaly syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln) rs777887810 0.00005
NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val) rs376454994 0.00001
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys) rs376157050 0.00001
NM_004247.4(EFTUD2):c.1655T>C (p.Ile552Thr) rs764121005 0.00001
NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser) rs1238043522 0.00001
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp) rs1230495188 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser) rs751348812
NM_004247.4(EFTUD2):c.1150-9C>G
NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala) rs2508771371
NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr) rs781005961
NM_004247.4(EFTUD2):c.1399G>A (p.Asp467Asn)
NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) rs2050683099
NM_004247.4(EFTUD2):c.1507G>T (p.Ala503Ser)
NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys) rs1017504685
NM_004247.4(EFTUD2):c.1783G>T (p.Val595Phe) rs2508751596
NM_004247.4(EFTUD2):c.1833C>A (p.Asn611Lys) rs137907318
NM_004247.4(EFTUD2):c.1861-9_1861-7del rs2050611350
NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His) rs2145455460
NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) rs2050609262
NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg) rs2508728076
NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) rs1567728359
NM_004247.4(EFTUD2):c.2466+2T>C rs2508723563
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004247.4(EFTUD2):c.2911C>G (p.Pro971Ala)
NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn) rs2051147769
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) rs2051340680
NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg) rs2508819919
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) rs2145532453
NM_004247.4(EFTUD2):c.702+3_702+4delinsAG rs2508819786

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.