ClinVar Miner

List of variants in gene NF2 reported by Athena Diagnostics Inc

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784 0.00081
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280 0.00001
NM_000268.4(NF2):c.1006dup (p.Arg336fs) rs1601643896
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.448-2A>G rs2146966211
NM_000268.4(NF2):c.461_479dup (p.Gly161fs) rs1569293373
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.738_756del (p.Glu247fs) rs1555996156
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068

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