List of variants in gene BLM reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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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.1933C>T (p.Gln645Ter)	rs373525781	0.00009
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00006
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)	rs367543028	0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)	rs587783037	0.00002
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)	rs367543024	0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs)	rs367543021	0.00001
NM_000057.4(BLM):c.1385del (p.Ser462fs)	rs730881429
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.205G>T (p.Glu69Ter)	rs746195311
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_000057.4(BLM):c.2308-2A>G	rs1248548542
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.2923del (p.Gln975fs)	rs367543014
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	rs1555423753
NM_000057.4(BLM):c.3261del (p.Phe1087fs)	rs1319786857
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013

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