ClinVar Miner

List of variants studied for nervous system cancer by Department of Pediatrics, Memorial Sloan Kettering Cancer Center

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_000321.3(RB1):c.-206_-189del rs2138025895
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333-2A>G rs1555286503
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter) rs2138145156
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) rs1593457070
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs) rs2138327168
NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs) rs2138342284
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs) rs2138344622
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter) rs2138344925
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter) rs2138344987
NM_000321.3(RB1):c.2325+1G>T rs1131690882
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs) rs2138345982
NM_000321.3(RB1):c.2520+6T>C rs2138354759
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer) rs2138087597
NM_000321.3(RB1):c.719-1_719delinsAG rs2138112061
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.840dup (p.His281fs) rs2138112755
NM_000321.3(RB1):c.939+1G>A rs2138116708
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.3:c.2265_2343delinsAT
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.897_1260+1del

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.