ClinVar Miner

List of variants in gene NF2 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1575-67G>A rs140086 0.99995
NM_000268.4(NF2):c.240+171T>A rs2530662 0.67485
NM_000268.4(NF2):c.886-205C>T rs2252472 0.37694
NM_000268.4(NF2):c.999+296A>G rs2252587 0.37691
NM_000268.4(NF2):c.600-154G>A rs2071622 0.37687
NM_000268.4(NF2):c.676-249G>A rs2857640 0.37672
NM_000268.4(NF2):c.810+246A>G rs2857641 0.37633
NM_000268.4(NF2):c.241-85G>T rs5763378 0.32451
NM_000268.4(NF2):c.1737+1623T>C rs7291645 0.31605
NM_000268.3(NF2):c.-752G>C rs1800538 0.24203
NM_000268.4(NF2):c.517-150C>T rs6006220 0.22506
NM_000268.4(NF2):c.364-39A>C rs2530664 0.14175
NM_000268.4(NF2):c.115-256A>C rs2531848 0.14159
NM_000268.4(NF2):c.364-291C>G rs2531849 0.14151
NM_000268.4(NF2):c.1123-51C>T rs13055076 0.10682
NM_000268.4(NF2):c.1737+135T>C rs5752952 0.10517
NM_000268.4(NF2):c.1122+129A>T rs2527336 0.09456
NM_000268.4(NF2):c.1574+173G>A rs56188151 0.07518
NM_000268.4(NF2):c.241-58G>A rs79901896 0.06933
NM_000268.4(NF2):c.600-239C>A rs9614025 0.04215
NM_000268.4(NF2):c.600-215A>G rs5752949 0.03004
NM_000268.4(NF2):c.1000-212_1000-210del rs4034748 0.02906
NM_000268.4(NF2):c.1340+248A>G rs73881591 0.02166
NM_000268.4(NF2):c.114+335dup rs147717202 0.01672
NM_000268.4(NF2):c.1738-283C>T rs56761979 0.01470
NM_000268.4(NF2):c.600-194A>G rs2071621 0.00510
NC_000022.11:g.29603369G>C rs112049943 0.00466
NM_000268.4(NF2):c.517-249G>C rs141330612 0.00450
NM_000268.4(NF2):c.885+248C>T rs185240022 0.00376
NM_000268.4(NF2):c.599+289G>A rs187607171 0.00374
NM_000268.4(NF2):c.448-17C>T rs190596693 0.00215
NM_000268.4(NF2):c.1737+2183G>A rs192755300 0.00185
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.517-61G>C rs568134420 0.00136
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000268.4(NF2):c.675+49T>C rs148076331 0.00098
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.246G>A (p.Leu82=) rs371270318 0.00021
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.1385G>A (p.Arg462His) rs373650983 0.00011
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526 0.00011
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156 0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000268.4(NF2):c.1000-7C>G rs776237839 0.00004
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384 0.00004
NM_000268.4(NF2):c.705A>C (p.Gly235=) rs749331641 0.00003
NM_000268.4(NF2):c.783C>T (p.Ile261=) rs765223726 0.00003
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.1052G>A (p.Arg351His) rs771675702 0.00002
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000268.4(NF2):c.916C>G (p.Leu306Val) rs1399716137 0.00002
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209 0.00001
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875 0.00001
NM_000268.4(NF2):c.1463C>T (p.Pro488Leu) rs1173959854 0.00001
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922 0.00001
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136 0.00001
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764 0.00001
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145 0.00001
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600 0.00001
NM_000268.4(NF2):c.182T>C (p.Phe61Ser) rs1286915234 0.00001
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NC_000022.11:g.29603361del rs1799754
NC_000022.11:g.29603361dup rs1799754
NM_000268.4(NF2):c.1001T>A (p.Met334Lys) rs2066798910
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1056del (p.Arg353fs) rs1601644130
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1228C>T (p.Gln410Ter) rs1556000842
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1447-222_1447-216dup rs3074521
NM_000268.4(NF2):c.1535C>T (p.Thr512Ile)
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.1737+1406T>A
NM_000268.4(NF2):c.1737+1414T>G
NM_000268.4(NF2):c.1737+1419C>T
NM_000268.4(NF2):c.1737+1444T>C
NM_000268.4(NF2):c.1737+300G>T rs139341275
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter) rs1341371726
NM_000268.4(NF2):c.1A>G (p.Met1Val) rs1319282473
NM_000268.4(NF2):c.240G>A (p.Lys80=) rs1555986950
NM_000268.4(NF2):c.291G>C (p.Leu97Phe)
NM_000268.4(NF2):c.2T>C (p.Met1Thr) rs1555978325
NM_000268.4(NF2):c.30del (p.Phe11fs) rs1601515836
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.364-140dup rs143701873
NM_000268.4(NF2):c.367A>T (p.Lys123Ter)
NM_000268.4(NF2):c.36C>T (p.Ser12=) rs371800843
NM_000268.4(NF2):c.447+2T>C rs2146895235
NM_000268.4(NF2):c.464C>T (p.Pro155Leu) rs2146966580
NM_000268.4(NF2):c.482G>A (p.Gly161Glu) rs2146966915
NM_000268.4(NF2):c.484T>C (p.Phe162Leu) rs1085307593
NM_000268.4(NF2):c.516+259A>C rs11913715
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.518TAA[1] (p.Ile174del)
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.574T>A (p.Tyr192Asn)
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.590G>T (p.Gly197Val)
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.599+280dup rs59436932
NM_000268.4(NF2):c.599+56del rs36029478
NM_000268.4(NF2):c.599+56dup rs36029478
NM_000268.4(NF2):c.600-139G>C rs117536234
NM_000268.4(NF2):c.652G>T (p.Gly218Cys) rs776818377
NM_000268.4(NF2):c.655G>A (p.Val219Met) rs1555994816
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.675+1G>C rs1555994854
NM_000268.4(NF2):c.676-334C>T rs114228106
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.77T>C (p.Ile26Thr) rs1064795612
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.795G>T (p.Ser265=) rs376609988
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.810+23_810+25del rs765519341
NM_000268.4(NF2):c.885+183del rs35328234
NM_000268.4(NF2):c.886-248GT[3] rs3842712

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