List of variants in gene BLM reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2555+7T>C	rs3815003	0.37072
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)	rs2227933	0.17282
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)	rs1063147	0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=)	rs2227934	0.15517
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.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962

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