ClinVar Miner

List of variants in gene BLM reported as likely pathogenic by Cancer Genomics Group, Japanese Foundation For Cancer Research

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3751+2T>C rs1897239414

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