List of variants reported as pathogenic for Bloom syndrome by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_000057.4(BLM):c.2923del (p.Gln975fs)	rs367543014
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.98+1G>T	rs750293380

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