ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 2 by Mendelics

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Total variants: 10
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HGVS dbSNP
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.493C>T (p.Gln165Ter) rs1601611973
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894

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