ClinVar Miner

List of variants in gene BLM reported as pathogenic by Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000057.2(BLM):c.98+1G>T rs750293380
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.1933C>T (p.Gln645Ter) rs373525781
NM_000057.3(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.3(BLM):c.2875C>T (p.Arg959Ter) rs762354041

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