List of variants reported as pathogenic for Bloom syndrome by Mendelics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)	rs1400231534	0.00001
NM_000057.4(BLM):c.1043dup (p.Met348fs)	rs1567038003
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)	rs1205301894
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)	rs1596232266
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_000057.4(BLM):c.2268del (p.Asp757fs)	rs747341586
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.3163dup (p.Cys1055fs)	rs2151187381
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)	rs367543029
NM_000057.4(BLM):c.3587del (p.Ser1196fs)	rs367543018

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