List of variants in gene BLM reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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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.98+1G>C	rs750293380	0.00003
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)	rs747281324	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)	rs746195311
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)	rs1896146578
NM_000057.4(BLM):c.2662+1G>T	rs2151178187
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)	rs758311406
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.3445del (p.Lys1148_Leu1149insTer)	rs1555424298
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)	rs2151194897

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