ClinVar Miner

List of variants in gene BLM reported by Pathway Genomics

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251

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