List of variants reported as pathogenic for Neurofibromatosis, type 1 by Institute of Medical Genetics, University of Zurich

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	rs137854557	0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	rs267606600	0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	rs397514641	0.00001
NM_000267.3:c.(3708_+1_3709-1)_(3974+1_3975-1)del
NM_000267.3:c.(?_-383)_(60+1_61-1)del
NM_001042492.3(NF1):c.1768del (p.Met590fs)	rs2508125537
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)	rs1064794276
NM_001042492.3(NF1):c.4482_4483del (p.His1494fs)	rs1555618821
NM_001042492.3(NF1):c.5034_5040del (p.Val1677_Tyr1678insTer)	rs2508696307
NM_001042492.3(NF1):c.6642+18A>G	rs1555534893
NM_001042492.3(NF1):c.6971del (p.Gln2324fs)	rs2508770185
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	rs866445127

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