ClinVar Miner

List of variants in gene NF2 reported as uncertain significance by Mendelics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000268.4(NF2):c.1737+1432G>A rs746764835 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217 0.00001
NM_000268.4(NF2):c.952G>A (p.Val318Ile) rs996057882 0.00001
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325

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