ClinVar Miner

List of variants in gene NF2 studied for Schwannomatosis 1

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NM_000268.4(NF2):c.1192_1193del (p.Leu398fs)
NM_000268.4(NF2):c.125_126insG (p.Gly43fs) rs587776564
NM_000268.4(NF2):c.1340+1G>C
NM_000268.4(NF2):c.205_211del (p.Lys69fs) rs587776565
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.363+1G>A rs1601583839
NM_000268.4(NF2):c.448-1G>A rs2146966216
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682

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