ClinVar Miner

List of variants in gene NF2 reported as pathogenic by GeneDx

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1056del (p.Arg353fs) rs1601644130
NM_000268.4(NF2):c.1228C>T (p.Gln410Ter) rs1556000842
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.30del (p.Phe11fs) rs1601515836
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.675+1G>C rs1555994854
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.810+1G>A rs794728682

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