ClinVar Miner

List of variants in gene NF2 reported as pathogenic by OMIM

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Gene type:
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Total variants: 19
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HGVS dbSNP
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NM_000268.3(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.3(NF2):c.1079T>C (p.Leu360Pro) rs74315492
NM_000268.3(NF2):c.1219C>T (p.Gln407Ter) rs74315501
NM_000268.3(NF2):c.125_126insG (p.Gly43Argfs) rs587776564
NM_000268.3(NF2):c.1387G>T (p.Glu463Ter) rs74315503
NM_000268.3(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.3(NF2):c.1579G>T (p.Glu527Ter) rs74315505
NM_000268.3(NF2):c.1604T>C (p.Leu535Pro) rs74315493
NM_000268.3(NF2):c.1613A>C (p.Gln538Pro) rs74315494
NM_000268.3(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.3(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.3(NF2):c.205_211del (p.Lys69Glnfs) rs587776565
NM_000268.3(NF2):c.240+1G>T rs587776562
NM_000268.3(NF2):c.286_288delTTC (p.Phe96del) rs121434260
NM_000268.3(NF2):c.544G>T (p.Glu182Ter) rs74315495
NM_000268.3(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.3(NF2):c.958C>T (p.Gln320Ter) rs74315497
NM_000268.3(NF2):c.995del (p.Lys332Serfs) rs587776563

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