ClinVar Miner

List of variants in gene NF2 reported as likely pathogenic

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Total variants: 17
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NM_000268.3(NF2):c.1122+1G>A rs1569304774
NM_000268.3(NF2):c.1507dup (p.Asp503fs) rs1556002536
NM_000268.3(NF2):c.1737+2T>A rs1556003801
NM_000268.3(NF2):c.2T>C (p.Met1Thr) rs1555978325
NM_000268.3(NF2):c.354_356CTT[1] (p.Phe119del) rs1555987732
NM_000268.3(NF2):c.465del (p.Ser156fs) rs1555992948
NM_000268.3(NF2):c.516+2T>G rs1569293488
NM_000268.3(NF2):c.551G>A (p.Trp184Ter) rs1555993293
NM_000268.3(NF2):c.556_557GA[2] (p.Arg187fs) rs1555993301
NM_000268.3(NF2):c.58_61delinsGT (p.Lys20fs) rs1555978369
NM_000268.3(NF2):c.599+1G>T rs1555993352
NM_000268.3(NF2):c.655G>A (p.Val219Met) rs1555994816
NM_000268.3(NF2):c.675+1G>A rs1555994854

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