List of variants in gene NF1 reported as pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	rs768638173	0.00001
NM_001042492.3(NF1):c.1296_1297dup (p.Tyr433fs)	rs2066619428
NM_001042492.3(NF1):c.3778_3781del (p.Met1260fs)	rs2067187424
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)	rs1060500344

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