List of variants reported as pathogenic for Neurofibromatosis, type 1 by Pars Genome Lab

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1A>G (p.Met1Val)	rs1060500252
NM_001042492.3(NF1):c.2322dup (p.Glu775Ter)
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	rs199474742
NM_001042492.3(NF1):c.5576T>G (p.Leu1859Ter)	rs2151541835

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