ClinVar Miner

List of variants in gene NF2 reported as likely pathogenic for Neurofibromatosis, type 2

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Total variants: 25
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HGVS dbSNP
NC_000022.10:g.(?_30035073)_(30035207_?)del
NC_000022.10:g.(?_30064316)_(30067943_?)del
NC_000022.10:g.(?_30077422)_(30077596_?)dup
NC_000022.11:g.(?_29639090)_(29639212_?)del
NC_000022.11:g.(?_29668333)_(29671948_?)del
NC_000022.11:g.(?_29671816)_(29671958_?)del
NM_000268.4(NF2):c.114+1G>A
NM_000268.4(NF2):c.115-1G>A
NM_000268.4(NF2):c.1507dup (p.Asp503fs) rs1556002536
NM_000268.4(NF2):c.223_240+8del rs1601579295
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.354CTT[1] (p.Phe119del) rs1555987732
NM_000268.4(NF2):c.363+2T>C
NM_000268.4(NF2):c.465del (p.Ser156fs) rs1555992948
NM_000268.4(NF2):c.560_561del (p.Arg187fs) rs1555993301
NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs) rs1555978369
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.675+1del
NM_000268.4(NF2):c.675+5G>T
NM_016418.5(NF2):c.1122+1G>A rs1569304774
NM_016418.5(NF2):c.1446+1G>A rs1601652425
NM_016418.5(NF2):c.1737+2T>A rs1556003801
NM_016418.5(NF2):c.516+2T>G rs1569293488
NM_016418.5(NF2):c.599+1G>T rs1555993352
NM_016418.5(NF2):c.675+1G>A rs1555994854

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