List of variants reported as pathogenic for Bloom syndrome by Counsyl

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)	rs367543028	0.00002
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)	rs367543024	0.00001
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)	rs762804291
NM_000057.4(BLM):c.2923del (p.Gln975fs)	rs367543014
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)	rs367543035

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