ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813

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.