ClinVar Miner

List of variants in gene RAD50 reported as likely pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382 0.00004
NM_005732.4(RAD50):c.1052-2A>C rs876660957 0.00001
NM_005732.4(RAD50):c.129+2T>A rs748086984 0.00001
NM_005732.4(RAD50):c.130-1G>T rs876658784 0.00001
NM_005732.4(RAD50):c.1794-1G>A rs587781742 0.00001
NM_005732.4(RAD50):c.213+1G>T rs765484171 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
NM_005732.3:c.2291_2292insALU
NM_005732.4(RAD50):c.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)
NM_005732.4(RAD50):c.1636-2A>G rs1554098466
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005732.4(RAD50):c.1969+1G>A rs587782078
NM_005732.4(RAD50):c.1970-2A>G rs876660728
NM_005732.4(RAD50):c.1A>G (p.Met1Val) rs876658212
NM_005732.4(RAD50):c.2524+1G>T rs1581001575
NM_005732.4(RAD50):c.2525-1G>T rs1015686770
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC rs1580985027
NM_005732.4(RAD50):c.2718+1_2718+5del rs876659158
NM_005732.4(RAD50):c.2829+5G>C rs1446519890
NM_005732.4(RAD50):c.2830-2A>C rs1554099356
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
NM_005732.4(RAD50):c.3164+1G>A rs786203805
NM_005732.4(RAD50):c.3164+1G>C rs786203805
NM_005732.4(RAD50):c.3164+2T>C
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.3389+1G>C rs762648843
NM_005732.4(RAD50):c.366-2A>G rs1554097755
NM_005732.4(RAD50):c.551+2T>A rs1580987375
NM_005732.4(RAD50):c.551+2T>C rs1580987375
NM_005732.4(RAD50):c.552-1G>T
NM_005732.4(RAD50):c.756+2T>G rs764122619
NM_005732.4(RAD50):c.756_756+2delinsTG rs1554097840
NM_005732.4(RAD50):c.886-1G>C rs1580992079
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA rs1554098191

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.