List of variants reported as likely pathogenic for Bloom syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.3020-258A>G	rs1301751251	0.00001
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	rs1356090839
NM_000057.4(BLM):c.2074+1G>T	rs367543036
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2406+2T>G	rs367543016
NM_000057.4(BLM):c.2580_2581del (p.His860fs)	rs864622347
NM_000057.4(BLM):c.2662+2T>C	rs1567052324
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)	rs758311406

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