List of variants reported as likely pathogenic for Bloom syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000057.4(BLM):c.2823+2T>A	rs1896712920	0.00001
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)	rs2151158332
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)	rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2580_2581del (p.His860fs)	rs864622347
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)	rs1896712163
NM_000057.4(BLM):c.357_358del (p.Cys120fs)	rs748186908
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599

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