ClinVar Miner

List of variants reported for Bloom syndrome by GeneReviews

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012

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