ClinVar Miner

List of variants reported as likely benign for Neurofibromatosis, type 2

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ClinVar version:
Total variants: 232
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HGVS dbSNP
NM_000268.4(NF2):c.*1320_*1325del rs148703036
NM_000268.4(NF2):c.*1438A>G rs376061969
NM_000268.4(NF2):c.*1618T>C rs184477204
NM_000268.4(NF2):c.*2113C>T rs537244098
NM_000268.4(NF2):c.*2311G>A rs113956497
NM_000268.4(NF2):c.*2369T>C rs150581809
NM_000268.4(NF2):c.*2487A>G rs550207111
NM_000268.4(NF2):c.*2841C>T rs142797364
NM_000268.4(NF2):c.*3603A>C rs557359614
NM_000268.4(NF2):c.*52C>A rs370016332
NM_000268.4(NF2):c.*704del rs567370520
NM_000268.4(NF2):c.1000-5C>T
NM_000268.4(NF2):c.1005G>A (p.Glu335=)
NM_000268.4(NF2):c.1011G>A (p.Gln337=)
NM_000268.4(NF2):c.1017C>T (p.Leu339=)
NM_000268.4(NF2):c.1020T>C (p.Ala340=) rs1556000130
NM_000268.4(NF2):c.1056G>A (p.Thr352=) rs145427713
NM_000268.4(NF2):c.1059G>A (p.Arg353=)
NM_000268.4(NF2):c.105C>T (p.Phe35=) rs976153071
NM_000268.4(NF2):c.1077G>A (p.Arg359=) rs878853923
NM_000268.4(NF2):c.1078C>T (p.Leu360=)
NM_000268.4(NF2):c.1080G>C (p.Leu360=)
NM_000268.4(NF2):c.1081C>T (p.Leu361=)
NM_000268.4(NF2):c.1104A>G (p.Thr368=) rs1601644321
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414
NM_000268.4(NF2):c.1122+10G>A
NM_000268.4(NF2):c.1128G>C (p.Arg376=) rs757322524
NM_000268.4(NF2):c.114+7G>A
NM_000268.4(NF2):c.115-4G>A
NM_000268.4(NF2):c.115-6T>C
NM_000268.4(NF2):c.1155T>C (p.Ala385=)
NM_000268.4(NF2):c.1170C>T (p.Ile390=)
NM_000268.4(NF2):c.1173C>T (p.Thr391=) rs769454739
NM_000268.4(NF2):c.1179G>A (p.Glu393=) rs1601648277
NM_000268.4(NF2):c.1197C>T (p.Ala399=)
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976
NM_000268.4(NF2):c.1209A>C (p.Ala403=)
NM_000268.4(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.4(NF2):c.1212G>A (p.Glu404=) rs748403377
NM_000268.4(NF2):c.1215T>G (p.Ala405=) rs772219612
NM_000268.4(NF2):c.1218G>A (p.Glu406=)
NM_000268.4(NF2):c.1236C>T (p.Ile412=)
NM_000268.4(NF2):c.1242C>T (p.Ala414=)
NM_000268.4(NF2):c.1245A>G (p.Thr415=)
NM_000268.4(NF2):c.1248G>A (p.Ala416=) rs759993776
NM_000268.4(NF2):c.1257G>A (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1257G>C (p.Thr419=) rs375969005
NM_000268.4(NF2):c.126A>G (p.Lys42=) rs1601578848
NM_000268.4(NF2):c.1272C>A (p.Arg424=) rs781241303
NM_000268.4(NF2):c.1273C>T (p.Leu425=) rs142446775
NM_000268.4(NF2):c.1290G>A (p.Val430=) rs756041768
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.1299C>T (p.Ala433=)
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209
NM_000268.4(NF2):c.1317G>A (p.Lys439=) rs1556000937
NM_000268.4(NF2):c.1323T>A (p.Ala441=) rs1556000942
NM_000268.4(NF2):c.132G>A (p.Lys44=) rs1224221346
NM_000268.4(NF2):c.1340+8G>T rs370604189
NM_000268.4(NF2):c.1341-5del
NM_000268.4(NF2):c.1350G>A (p.Glu450=) rs1231236846
NM_000268.4(NF2):c.1353A>G (p.Ala451=)
NM_000268.4(NF2):c.135C>T (p.Asp45=) rs752664255
NM_000268.4(NF2):c.1383A>C (p.Ala461=)
NM_000268.4(NF2):c.1383A>G (p.Ala461=)
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833
NM_000268.4(NF2):c.1395G>A (p.Glu465=) rs1556001388
NM_000268.4(NF2):c.1413G>A (p.Lys471=) rs1323009570
NM_000268.4(NF2):c.1419G>A (p.Leu473=)
NM_000268.4(NF2):c.1428C>T (p.Ala476=)
NM_000268.4(NF2):c.1431C>A (p.Thr477=)
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1440G>A (p.Thr480=) rs774373946
NM_000268.4(NF2):c.1443C>T (p.Tyr481=)
NM_000268.4(NF2):c.1446+10G>C
NM_000268.4(NF2):c.1446+9G>A rs778709917
NM_000268.4(NF2):c.1447-7T>C rs1182185192
NM_000268.4(NF2):c.1455C>T (p.Asn485=) rs368966931
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1470G>T (p.Pro490=)
NM_000268.4(NF2):c.1491C>T (p.Ser497=) rs1556002514
NM_000268.4(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.4(NF2):c.1500C>T (p.Leu500=) rs758182356
NM_000268.4(NF2):c.1509C>T (p.Asp503=)
NM_000268.4(NF2):c.1518T>A (p.Ser506=)
NM_000268.4(NF2):c.1521C>T (p.Phe507=)
NM_000268.4(NF2):c.1524C>T (p.Asp508=)
NM_000268.4(NF2):c.1527C>T (p.Phe509=)
NM_000268.4(NF2):c.1533T>C (p.Asp511=) rs1601659271
NM_000268.4(NF2):c.1548G>T (p.Arg516=) rs534398531
NM_000268.4(NF2):c.1560G>A (p.Glu520=)
NM_000268.4(NF2):c.1569A>G (p.Lys523=)
NM_000268.4(NF2):c.1574+10C>T
NM_000268.4(NF2):c.1574+7A>G rs1601659412
NM_000268.4(NF2):c.1574+9C>A
NM_000268.4(NF2):c.1575-6C>T rs1350177470
NM_000268.4(NF2):c.1617C>T (p.Leu539=) rs1556003665
NM_000268.4(NF2):c.1638C>T (p.Ile546=) rs774264046
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486
NM_000268.4(NF2):c.1653G>A (p.Leu551=) rs1601666174
NM_000268.4(NF2):c.165G>A (p.Gly55=)
NM_000268.4(NF2):c.1671T>C (p.Ala557=) rs759780271
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156
NM_000268.4(NF2):c.1722C>T (p.His574=) rs1041539951
NM_000268.4(NF2):c.1737+9G>A rs1601666607
NM_000268.4(NF2):c.1743C>T (p.Thr581=)
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060
NM_000268.4(NF2):c.1764A>C (p.Arg588=) rs1601688952
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504
NM_000268.4(NF2):c.1776T>C (p.Phe592=) rs1290530587
NM_000268.4(NF2):c.1785C>G (p.Leu595=)
NM_000268.4(NF2):c.183C>T (p.Phe61=)
NM_000268.4(NF2):c.186T>C (p.Phe62=) rs373178836
NM_000268.4(NF2):c.190C>T (p.Leu64=)
NM_000268.4(NF2):c.216G>C (p.Val72=) rs1601579272
NM_000268.4(NF2):c.219C>T (p.Ala73=)
NM_000268.4(NF2):c.240+15C>T rs200701337
NM_000268.4(NF2):c.240+8T>C
NM_000268.4(NF2):c.241-10A>G
NM_000268.4(NF2):c.241-4G>C
NM_000268.4(NF2):c.241-5T>C rs1378725834
NM_000268.4(NF2):c.252T>C (p.His84=) rs374512699
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248
NM_000268.4(NF2):c.264G>A (p.Lys88=)
NM_000268.4(NF2):c.276C>T (p.Val92=)
NM_000268.4(NF2):c.279C>T (p.Thr93=) rs758722464
NM_000268.4(NF2):c.289T>C (p.Leu97=)
NM_000268.4(NF2):c.294C>G (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.318A>G (p.Glu106=)
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384
NM_000268.4(NF2):c.336G>A (p.Glu112=)
NM_000268.4(NF2):c.339C>T (p.Ile113=)
NM_000268.4(NF2):c.342A>G (p.Thr114=)
NM_000268.4(NF2):c.354C>T (p.Phe118=) rs756564761
NM_000268.4(NF2):c.357C>T (p.Phe119=) rs1370689871
NM_000268.4(NF2):c.363+7C>T
NM_000268.4(NF2):c.363+9G>A
NM_000268.4(NF2):c.363+9G>T rs1601583861
NM_000268.4(NF2):c.364-8C>T rs1601589373
NM_000268.4(NF2):c.36C>T (p.Ser12=)
NM_000268.4(NF2):c.402T>C (p.Pro134=)
NM_000268.4(NF2):c.402T>G (p.Pro134=)
NM_000268.4(NF2):c.414T>C (p.Ser138=) rs1601589507
NM_000268.4(NF2):c.417G>A (p.Val139=)
NM_000268.4(NF2):c.432C>T (p.Tyr144=)
NM_000268.4(NF2):c.435C>T (p.Ala145=) rs955424447
NM_000268.4(NF2):c.438C>G (p.Val146=)
NM_000268.4(NF2):c.447+10A>G
NM_000268.4(NF2):c.459C>T (p.Tyr153=) rs142972020
NM_000268.4(NF2):c.48G>A (p.Arg16=) rs774973059
NM_000268.4(NF2):c.492C>T (p.Ala164=) rs1307586355
NM_000268.4(NF2):c.501A>G (p.Glu167=)
NM_000268.4(NF2):c.504G>A (p.Leu168=) rs182990439
NM_000268.4(NF2):c.516+10T>G rs758073951
NM_000268.4(NF2):c.516+7G>T
NM_000268.4(NF2):c.516+9T>C
NM_000268.4(NF2):c.517-10T>C
NM_000268.4(NF2):c.531T>C (p.Tyr177=)
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280
NM_000268.4(NF2):c.546A>G (p.Glu182=)
NM_000268.4(NF2):c.555G>A (p.Glu185=) rs1293410909
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133
NM_000268.4(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.4(NF2):c.57C>G (p.Pro19=)
NM_000268.4(NF2):c.600-8C>T
NM_000268.4(NF2):c.651C>T (p.Tyr217=)
NM_000268.4(NF2):c.672C>T (p.Ile224=)
NM_000268.4(NF2):c.676-4A>G
NM_000268.4(NF2):c.676-9G>T
NM_000268.4(NF2):c.687C>A (p.Gly229=)
NM_000268.4(NF2):c.693G>A (p.Glu231=)
NM_000268.4(NF2):c.696G>A (p.Leu232=)
NM_000268.4(NF2):c.699G>T (p.Leu233=) rs780003734
NM_000268.4(NF2):c.69C>A (p.Thr23=)
NM_000268.4(NF2):c.6C>T (p.Ala2=)
NM_000268.4(NF2):c.705A>C (p.Gly235=) rs749331641
NM_000268.4(NF2):c.720G>T (p.Gly240=) rs769348972
NM_000268.4(NF2):c.726C>T (p.His242=)
NM_000268.4(NF2):c.72G>A (p.Val24=)
NM_000268.4(NF2):c.72G>C (p.Val24=) rs761062232
NM_000268.4(NF2):c.738T>C (p.Pro246=)
NM_000268.4(NF2):c.745A>C (p.Arg249=)
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.771G>A (p.Pro257=) rs759032771
NM_000268.4(NF2):c.783C>T (p.Ile261=) rs765223726
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.78C>T (p.Ile26=)
NM_000268.4(NF2):c.795G>A (p.Ser265=) rs376609988
NM_000268.4(NF2):c.798C>T (p.Tyr266=) rs917257652
NM_000268.4(NF2):c.810+23_810+25del rs765519341
NM_000268.4(NF2):c.810+7C>T
NM_000268.4(NF2):c.810+9T>C rs143794864
NM_000268.4(NF2):c.811-10A>G
NM_000268.4(NF2):c.826C>T (p.Leu276=)
NM_000268.4(NF2):c.849C>T (p.Phe283=) rs1555997567
NM_000268.4(NF2):c.84C>T (p.Thr28=) rs1410448416
NM_000268.4(NF2):c.861C>T (p.Ser287=) rs143160499
NM_000268.4(NF2):c.873T>C (p.Arg291=)
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477
NM_000268.4(NF2):c.882G>A (p.Lys294=) rs146166875
NM_000268.4(NF2):c.886-5C>T
NM_000268.4(NF2):c.886-9del
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176
NM_000268.4(NF2):c.912T>C (p.His304=) rs200272173
NM_000268.4(NF2):c.915T>C (p.Asp305=) rs1601636823
NM_000268.4(NF2):c.930A>G (p.Arg310=) rs1408103989
NM_000268.4(NF2):c.939C>A (p.Ala313=) rs747526252
NM_000268.4(NF2):c.939C>T (p.Ala313=) rs747526252
NM_000268.4(NF2):c.946T>C (p.Leu316=)
NM_000268.4(NF2):c.951A>G (p.Glu317=) rs1601636972
NM_000268.4(NF2):c.966A>G (p.Lys322=) rs746175548
NM_000268.4(NF2):c.978G>A (p.Arg326=) rs1601637089
NM_000268.4(NF2):c.993A>G (p.Arg331=) rs1601637132
NM_000268.4(NF2):c.999+15G>A rs367716680
NM_000268.4(NF2):c.999+7A>C
NM_000268.4(NF2):c.9G>A (p.Gly3=)
NM_016418.5(NF2):c.1000-4G>A rs200113152
NM_016418.5(NF2):c.1000-7C>G rs776237839
NM_016418.5(NF2):c.1123-6C>T rs147898623
NM_016418.5(NF2):c.1446+5G>A rs367829184
NM_016418.5(NF2):c.1575-5G>A rs199622889
NM_016418.5(NF2):c.364-9T>C rs767658752
NM_016418.5(NF2):c.447+15_447+17del rs1555988797
NM_016418.5(NF2):c.448-4C>G rs760733256
NM_016418.5(NF2):c.448-5T>C rs878853928
NM_016418.5(NF2):c.517-4G>A rs1165155285
NM_016418.5(NF2):c.599+3G>A rs768301915
NM_016418.5(NF2):c.600-6C>T rs749155274
NM_016418.5(NF2):c.885+10G>C rs369317112
NM_016418.5(NF2):c.886-15C>T rs200837904

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