ClinVar Miner

List of variants in gene RAD50 reported as likely benign for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_005732.3(RAD50):c.3164+14delA rs148895884
NM_005732.3(RAD50):c.3164+22_3164+25dupCAGT rs536987915
NM_005732.3(RAD50):c.756+7delT rs377720482
NM_005732.4(RAD50):c.1052-16del rs757412385
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085
NM_005732.4(RAD50):c.2923-7T>C rs1329253830
NM_005732.4(RAD50):c.3165-8T>G rs369581851

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