ClinVar Miner

List of variants in gene NF2 reported by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 12
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HGVS dbSNP gnomAD frequency
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.1447-2del rs1556002457
NM_000268.4(NF2):c.1507dup (p.Asp503fs) rs1556002536
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.1737+2T>A rs1556003801
NM_000268.4(NF2):c.354CTT[1] (p.Phe119del) rs1555987732
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.592C>T (p.Arg198Ter) rs1555993345

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