ClinVar Miner

List of variants studied for Neurodevelopmental disorder with absent language and variable seizures

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003931.3(WASF1):c.1382C>T (p.Thr461Ile) rs142151316 0.00107
NM_003931.3(WASF1):c.1396C>T (p.His466Tyr)
NM_003931.3(WASF1):c.1466C>G (p.Ser489Ter) rs2114445929
NM_003931.3(WASF1):c.1473del (p.Pro492fs) rs2534211115
NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs) rs1562159599
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter) rs1562159562
NM_003931.3(WASF1):c.1522G>A (p.Gly508Ser) rs2534211033
NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter) rs1562159088
NM_003931.3(WASF1):c.1576C>T (p.Arg526Cys)
NM_003931.3(WASF1):c.262G>T (p.Glu88Ter) rs2534240781
NM_003931.3(WASF1):c.341G>A (p.Arg114His)
NM_003931.3(WASF1):c.493dup (p.Met165fs) rs2534225978
NM_003931.3(WASF1):c.523_534del (p.Glu175_Lys178del)
NM_003931.3(WASF1):c.652G>A (p.Ala218Thr)
NM_003931.3(WASF1):c.708A>T (p.Glu236Asp) rs115861851
NM_003931.3(WASF1):c.715C>T (p.Pro239Ser) rs2114451272
NM_003931.3(WASF1):c.866A>T (p.Asp289Val)
NM_003931.3(WASF1):c.889A>G (p.Ile297Val)
NM_003931.3(WASF1):c.957T>G (p.Phe319Leu)

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.