ClinVar Miner

List of variants in gene BLM reported by OMIM

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000057.2(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035

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