ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00279
NM_000057.4(BLM):c.2268A>G (p.Lys756=)	rs146013879	0.00163
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	0.00122

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