List of variants reported as likely pathogenic for DNA repair disease by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	rs149797103	0.00006
NM_002485.5(NBN):c.2184+1G>T	rs756363734	0.00001
NM_000135.4(FANCA):c.1827-2A>G	rs2143393518
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter)	rs2141946068

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