ClinVar Miner

List of variants in gene DEAF1 reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs) rs1590028691
NM_021008.4(DEAF1):c.613G>C (p.Val205Leu) rs893284652
NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr)
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.4(DEAF1):c.664+2T>G rs1564950387
NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe) rs2133402700
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg) rs1057524157
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) rs1554944271
NM_021008.4(DEAF1):c.748A>G (p.Lys250Glu) rs2133402368
NM_021008.4(DEAF1):c.782G>C (p.Arg261Pro)
NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser) rs1860524875
NM_021008.4(DEAF1):c.880G>C (p.Val294Leu) rs1590008294
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del) rs1554943158
NM_021008.4(DEAF1):c.926del (p.Leu309fs) rs1417226023

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.