List of variants reported as pathogenic for Neurofibromatosis, type 1 by Medical Molecular Genetics Department, National Research Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.2086_2088del (p.Trp696del)	rs2067017409
NM_001042492.3(NF1):c.2325+1G>T	rs1555613933
NM_001042492.3(NF1):c.3452dup (p.Asn1151fs)	rs2067137617
NM_001042492.3(NF1):c.3579T>G (p.Phe1193Leu)	rs2067142728
NM_001042492.3(NF1):c.4981_4984del (p.Lys1661fs)	rs2069329829
NM_001042492.3(NF1):c.6847dup (p.Asp2283fs)	rs2069743612

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