ClinVar Miner

List of variants reported as pathogenic for Bloom syndrome by Integrated Genetics/Laboratory Corporation of America

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Total variants: 10
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NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.768_769CT[2] (p.Leu258fs) rs367543013

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