ClinVar Miner

List of variants in gene RAD50 reported as likely pathogenic for Nijmegen breakage syndrome-like disorder

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Total variants: 9
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NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707

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