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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.687del (p.Ser229fs)	rs760146707	0.00042
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	rs121912628	0.00003
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	rs1247689593	0.00001
NM_005732.4(RAD50):c.183del (p.Gly63fs)	rs1554096791
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	rs1060501941
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)	rs878854799
NM_005732.4(RAD50):c.561dup (p.Ala188fs)	rs876659005

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