ClinVar Miner

List of variants reported for Bloom syndrome by Pars Genome Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004

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