ClinVar Miner

List of variants reported as uncertain significance for Bloom syndrome by Fulgent Genetics,Fulgent Genetics

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Total variants: 14
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NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2480T>A (p.Met827Lys) rs748250819
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) rs771776126
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061

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