List of variants in gene BLM reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06742
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00278
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	0.00172
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.2872G>A (p.Val958Met)	rs775006576	0.00001

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