List of variants reported as pathogenic for Nijmegen breakage syndrome-like disorder by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)	rs772468452	0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)	rs368980595	0.00002
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)	rs373428259	0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs)	rs587781625	0.00001
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs)	rs1060501954
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)	rs397507178
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)	rs587781930
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter)	rs587782090

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