ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 7
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NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) rs587782090

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