ClinVar Miner

List of variants reported as pathogenic for Bloom syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (1):

Bloom syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017

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