ClinVar Miner

List of variants studied for cancer by Genome-Nilou Lab

Included ClinVar conditions (490):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.927+4C>A rs4922872 0.98610
NM_003000.3(SDHB):c.201-36G>T rs1022580 0.95416
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_000321.3(RB1):c.500+23T>G rs198617 0.93273
NM_000321.3(RB1):c.2663+33C>T rs3020646 0.90292
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_032782.5(HAVCR2):c.419G>T (p.Arg140Leu) rs1036199 0.82762
NM_004360.5(CDH1):c.48+181G>C rs3743675 0.80468
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_017841.4(SDHAF2):c.261-42G>A rs879647 0.70822
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_024426.6(WT1):c.*267G>C rs5030317 0.44381
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_024426.6(WT1):c.1448-49T>C rs1799937 0.34839
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_024426.6(WT1):c.887+16G>A rs1799933 0.26810
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_024426.6(WT1):c.*88A>G rs5030315 0.14706
NM_017583.6(TRIM44):c.670-27G>C rs3740798 0.13698
NM_024426.6(WT1):c.*224A>G rs5030316 0.13669
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_024426.6(WT1):c.1265-32C>A rs2234593 0.12726
NM_017583.6(TRIM44):c.*23A>G rs61881297 0.12522
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_024426.6(WT1):c.662-1928_662-1927del rs71873106 0.02282
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_024426.6(WT1):c.*16G>T rs2234594 0.00421
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_003025.4(SH3GL1):c.771C>G (p.Pro257=) rs243261

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.