ClinVar Miner

List of variants reported as likely pathogenic for Neurofibromatosis, type 2

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Total variants: 13
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HGVS dbSNP
NC_000022.11:g.(?_29639090)_(29639212_?)del
NC_000022.11:g.(?_29668333)_(29671948_?)del
NC_000022.11:g.(?_29681433)_(29681607_?)dup
NM_000268.3(NF2):c.1122+1G>A
NM_000268.3(NF2):c.1507dup (p.Asp503Glyfs) rs1556002536
NM_000268.3(NF2):c.1737+2T>A rs1556003801
NM_000268.3(NF2):c.357_359delCTT (p.Phe119del) rs1555987732
NM_000268.3(NF2):c.465delC (p.Ser156Valfs) rs1555992948
NM_000268.3(NF2):c.516+2T>G
NM_000268.3(NF2):c.560_561delGA (p.Arg187Asnfs) rs1555993301
NM_000268.3(NF2):c.58_61delAAGAinsGT (p.Lys20Valfs) rs1555978369
NM_000268.3(NF2):c.599+1G>T rs1555993352
NM_000268.3(NF2):c.675+1G>A

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