ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Mendelics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.4076+4T>G rs183176301

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