ClinVar Miner

List of variants in gene NF2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.*359G>A rs572307337 0.00217
NM_000268.4(NF2):c.*1618T>C rs184477204 0.00213
NM_000268.4(NF2):c.*2311G>A rs113956497 0.00203
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000268.4(NF2):c.*4G>A rs141099051 0.00165
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000268.4(NF2):c.*3133A>G rs527795536 0.00032
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318 0.00021
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915 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.771G>A (p.Pro257=) rs759032771 0.00010
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976 0.00009
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833 0.00006
NM_000268.4(NF2):c.1000-7C>G rs776237839 0.00004
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248 0.00004
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133 0.00004
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000268.4(NF2):c.783C>T (p.Ile261=) rs765223726 0.00003
NM_000268.4(NF2):c.912T>C (p.His304=) rs200272173 0.00003
NM_000268.4(NF2):c.651C>T (p.Tyr217=) rs367802186 0.00002
NM_000268.4(NF2):c.861C>T (p.Ser287=) rs143160499 0.00002
NM_000268.4(NF2):c.1128G>C (p.Arg376=) rs757322524 0.00001
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747 0.00001
NM_000268.4(NF2):c.1767G>A (p.Val589=) rs754168138 0.00001
NM_000268.4(NF2):c.363+5A>G rs1361659919 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
GRCh37/hg19 22q12.2(chr22:30090741-30090791)x1
NM_000268.4(NF2):c.*2369T>C rs150581809
NM_000268.4(NF2):c.*3303G>A
NM_000268.4(NF2):c.*3319del rs372162228
NM_000268.4(NF2):c.100_117del (p.Glu34_Met39del) rs2064717929
NM_000268.4(NF2):c.1281G>A (p.Glu427=)
NM_000268.4(NF2):c.1291C>T (p.Leu431=) rs1297186898
NM_000268.4(NF2):c.1293G>A (p.Leu431=) rs1340711783
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1543A>T (p.Lys515Ter)
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg) rs1379683835
NM_000268.4(NF2):c.1732A>G (p.Lys578Glu) rs2147123687
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter) rs1341371726
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.272C>A (p.Pro91Gln) rs1569281659
NM_000268.4(NF2):c.41_42del (p.Leu14fs) rs1418675250
NM_000268.4(NF2):c.450T>C (p.Tyr150=) rs2146966255
NM_000268.4(NF2):c.602A>T (p.Asp201Val) rs1601618525
NM_000268.4(NF2):c.735C>T (p.Asp245=)
NM_000268.4(NF2):c.812T>G (p.Phe271Cys) rs1555997533

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