ClinVar Miner

List of variants reported as likely benign for Nijmegen breakage syndrome-like disorder

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
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.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.3165-8T>G rs369581851
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_005732.4(RAD50):c.756+7del rs377720482

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