ClinVar Miner

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

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Total variants: 14
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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.363+2T>C
NM_000268.4(NF2):c.675+1del
NM_016418.5(NF2):c.1122+1G>A rs1569304774
NM_016418.5(NF2):c.1446+1G>A rs1601652425
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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