ClinVar Miner

List of variants reported as pathogenic for Bloom syndrome by Counsyl

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Total variants: 6
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NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035

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