ClinVar Miner

List of variants in gene NF2 studied for not specified

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.364-39A>C rs2530664 0.14175
NM_000268.4(NF2):c.448-17C>T rs190596693 0.00215
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
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.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784 0.00081
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060 0.00040
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000268.4(NF2):c.-18G>A rs201591536 0.00026
NM_000268.4(NF2):c.114+20G>T rs746868503 0.00016
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915 0.00016
NM_000268.4(NF2):c.363+19C>A rs202225081 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526 0.00011
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976 0.00009
NM_000268.4(NF2):c.1000-7C>G rs776237839 0.00004
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384 0.00004
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) rs773296925 0.00003
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157 0.00003
NM_000268.4(NF2):c.705A>C (p.Gly235=) rs749331641 0.00003
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.435C>T (p.Ala145=) rs955424447 0.00001
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280 0.00001
NM_000268.4(NF2):c.952G>A (p.Val318Ile) rs996057882 0.00001
NM_000268.4(NF2):c.1097A>C (p.Glu366Ala)
NM_000268.4(NF2):c.1163C>T (p.Ala388Val) rs587778553
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.795G>T (p.Ser265=) rs376609988

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