ClinVar Miner

List of variants studied for Neurofibromatosis, type 2 by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys) rs2066864084
NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter) rs2066914171
NM_000268.4(NF2):c.1786T>C (p.Ter596Gln) rs1569319775
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.675+5G>T rs2066373952

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