ClinVar Miner

List of variants in gene NF2 reported as pathogenic for not provided

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Total variants: 12
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HGVS dbSNP
NM_000268.3(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.3(NF2):c.1228C>T (p.Gln410Ter) rs1556000842
NM_000268.3(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.3(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.3(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.3(NF2):c.461_479dup (p.Gly161fs) rs1569293373
NM_000268.3(NF2):c.517-1G>A rs1064796632
NM_000268.3(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.3(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.3(NF2):c.675+1G>C rs1555994854
NM_000268.3(NF2):c.738_756del (p.Glu247fs) rs1555996156
NM_000268.3(NF2):c.810+1G>A rs794728682

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