ClinVar Miner

List of variants in gene NF1 reported as pathogenic by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter) rs2069602711
NM_001042492.3(NF1):c.6166A>T (p.Lys2056Ter) rs1555534667
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)

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