ClinVar Miner

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

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Total variants: 15
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NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2824-2A>T rs745538883
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.98+1G>T rs750293380

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