List of variants reported as likely pathogenic for Neurofibromatosis, type 1 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.5812+332A>G	rs863224491	0.00001
NM_001042492.3(NF1):c.*481A>G
NM_001042492.3(NF1):c.-272G>A	rs1911510393
NM_001042492.3(NF1):c.-273A>C
NM_001042492.3(NF1):c.1260+1604A>G	rs1131691067
NM_001042492.3(NF1):c.1261-19G>A	rs1597688663
NM_001042492.3(NF1):c.1392+754T>G
NM_001042492.3(NF1):c.1393-592A>G	rs2066773116
NM_001042492.3(NF1):c.1527+1159C>T	rs878853868
NM_001042492.3(NF1):c.1642-449A>G	rs863224655
NM_001042492.3(NF1):c.2002-14C>G	rs928979051
NM_001042492.3(NF1):c.2252-11T>G
NM_001042492.3(NF1):c.2410-12T>G	rs876657932
NM_001042492.3(NF1):c.2410-15A>G	rs1597715031
NM_001042492.3(NF1):c.2410-16A>G	rs1567848704
NM_001042492.3(NF1):c.2410-18C>G	rs533210843
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.288+2025T>G	rs2544695286
NM_001042492.3(NF1):c.2991-11T>G	rs2508204517
NM_001042492.3(NF1):c.3198-314G>A	rs2067116490
NM_001042492.3(NF1):c.3974+260T>G	rs1567853044
NM_001042492.3(NF1):c.4110+945A>G	rs2067468999
NM_001042492.3(NF1):c.4173+278A>G
NM_001042492.3(NF1):c.4578-14T>G
NM_001042492.3(NF1):c.5269-38A>G	rs2151540615
NM_001042492.3(NF1):c.5610-456G>T
NM_001042492.3(NF1):c.5813-279A>G
NM_001042492.3(NF1):c.587-12T>A
NM_001042492.3(NF1):c.587-14T>A	rs940581106
NM_001042492.3(NF1):c.61-7486G>T	rs1597617010
NM_001042492.3(NF1):c.6428-11T>G	rs2151555896
NM_001042492.3(NF1):c.6642+18A>G	rs1555534893
NM_001042492.3(NF1):c.7190-12T>A	rs1597858284
NM_001042492.3(NF1):c.7971-17C>G
NM_001042492.3(NF1):c.7971-321C>G	rs2070316606
NM_001042492.3(NF1):c.8113+25A>T
NM_001042492.3(NF1):c.888+651T>A
NM_001042492.3(NF1):c.888+744A>G	rs1597660915
NM_001042492.3(NF1):c.888+789A>G	rs1597660974
NM_001042492.3(NF1):c.889-12T>A

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