ClinVar Miner

List of variants in gene BLM reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 11
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HGVS dbSNP
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.2075-1G>A rs1231598990
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1G>T rs865866188
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.98+1G>C rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380

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