ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
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.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707

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