List of variants reported as pathogenic for Neurofibromatosis, type 1 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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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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