ClinVar Miner

List of variants reported as likely pathogenic by CZECANCA consortium

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495
NM_002878.3(RAD51D):c.345+2T>C rs876659394
NM_004629.2(FANCG):c.778-2A>C
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
NM_006361.6(HOXB13):c.251G>A rs138213197
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995

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.