List of variants reported as likely pathogenic for Neurofibromatosis, type 1 by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs)	rs1597682729
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)	rs1567847681
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln)	rs1555605393
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)	rs758915600
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro)	rs1597745583
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)	rs1597829906
NM_001042492.3(NF1):c.5079del (p.His1693fs)	rs1597829969
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)	rs771529172
NM_001042492.3(NF1):c.5847del (p.Met1949fs)	rs1597840055

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