ClinVar Miner

List of variants reported as pathogenic for Bloom syndrome by Centogene AG - the Rare Disease Company

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029

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