ClinVar Miner

List of variants studied for central nervous system neoplasm by Genome Sciences Centre, British Columbia Cancer Agency

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln) rs1465002801 0.00001
NM_000489.6(ATRX):c.4213A>G (p.Arg1405Gly) rs1569535987
NM_001130823.3(DNMT1):c.1645-1G>T rs1568234664
NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs) rs1568503055
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp) rs1568504941
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
inv(22)(q12.2q12.2)
t(5;22)(q31.2;q12.1)

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.