ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 2 by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 6
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HGVS dbSNP
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_016418.5(NF2):c.1447-2del rs1556002457

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