ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219

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.