ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Invitae

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Total variants: 20
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HGVS dbSNP
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813
NM_000057.4(BLM):c.2070G>T (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2838A>T (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554
NM_000057.4(BLM):c.3358+7_3358+13del rs1555423799
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.342T>C (p.Thr114=) rs746257638
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.99-9A>T rs1419730289

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