ClinVar Miner

List of variants in gene NF2 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
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.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060 0.00040
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318 0.00021
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486 0.00019
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.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000268.4(NF2):c.1505G>A (p.Gly502Asp) rs552115565 0.00012
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.771G>A (p.Pro257=) rs759032771 0.00010
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976 0.00009
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477 0.00009
NM_000268.4(NF2):c.48G>A (p.Arg16=) rs774973059 0.00008
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833 0.00006
NM_000268.4(NF2):c.1455C>T (p.Asn485=) rs368966931 0.00006
NM_000268.4(NF2):c.354C>T (p.Phe118=) rs756564761 0.00006
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156 0.00005
NM_000268.4(NF2):c.1248G>A (p.Ala416=) rs759993776 0.00004
NM_000268.4(NF2):c.1575-5G>A rs199622889 0.00004
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164 0.00004
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863 0.00004
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248 0.00004
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384 0.00004
NM_000268.4(NF2):c.459C>T (p.Tyr153=) rs142972020 0.00004
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133 0.00004
NM_000268.4(NF2):c.1257G>A (p.Thr419=) rs375969005 0.00003
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157 0.00003
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485 0.00003
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024 0.00003
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.912T>C (p.His304=) rs200272173 0.00003
NM_000268.4(NF2):c.939C>T (p.Ala313=) rs747526252 0.00003
NM_000268.4(NF2):c.1000-5C>T rs763266359 0.00002
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145 0.00002
NM_000268.4(NF2):c.1053C>T (p.Arg351=) rs1179494821 0.00002
NM_000268.4(NF2):c.1077G>A (p.Arg359=) rs878853923 0.00002
NM_000268.4(NF2):c.1212G>A (p.Glu404=) rs748403377 0.00002
NM_000268.4(NF2):c.1299C>T (p.Ala433=) rs749028891 0.00002
NM_000268.4(NF2):c.1488A>C (p.Pro496=) rs1310563343 0.00002
NM_000268.4(NF2):c.1500C>T (p.Leu500=) rs758182356 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000268.4(NF2):c.651C>T (p.Tyr217=) rs367802186 0.00002
NM_000268.4(NF2):c.699G>T (p.Leu233=) rs780003734 0.00002
NM_000268.4(NF2):c.795G>A (p.Ser265=) rs376609988 0.00002
NM_000268.4(NF2):c.861C>T (p.Ser287=) rs143160499 0.00002
NM_000268.4(NF2):c.1000-4G>A rs200113152 0.00001
NM_000268.4(NF2):c.1017C>T (p.Leu339=) rs756568857 0.00001
NM_000268.4(NF2):c.1056G>A (p.Thr352=) rs145427713 0.00001
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser) rs577940601 0.00001
NM_000268.4(NF2):c.1116A>G (p.Glu372=) rs2066806303 0.00001
NM_000268.4(NF2):c.1128G>C (p.Arg376=) rs757322524 0.00001
NM_000268.4(NF2):c.1173C>T (p.Thr391=) rs769454739 0.00001
NM_000268.4(NF2):c.1209A>C (p.Ala403=) rs1026655770 0.00001
NM_000268.4(NF2):c.1215T>G (p.Ala405=) rs772219612 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.1253G>A (p.Arg418His) rs548217466 0.00001
NM_000268.4(NF2):c.1273C>T (p.Leu425=) rs142446775 0.00001
NM_000268.4(NF2):c.1303G>T (p.Val435Leu) rs772334382 0.00001
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209 0.00001
NM_000268.4(NF2):c.135C>T (p.Asp45=) rs752664255 0.00001
NM_000268.4(NF2):c.1413G>A (p.Lys471=) rs1323009570 0.00001
NM_000268.4(NF2):c.1425T>A (p.Ile475=) rs774818801 0.00001
NM_000268.4(NF2):c.1440G>A (p.Thr480=) rs774373946 0.00001
NM_000268.4(NF2):c.1443C>T (p.Tyr481=) rs760224815 0.00001
NM_000268.4(NF2):c.1446+5G>A rs367829184 0.00001
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373 0.00001
NM_000268.4(NF2):c.1459A>G (p.Ile487Val) rs147506929 0.00001
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922 0.00001
NM_000268.4(NF2):c.1470G>T (p.Pro490=) rs373442542 0.00001
NM_000268.4(NF2):c.1518T>A (p.Ser506=) rs780287551 0.00001
NM_000268.4(NF2):c.1548G>T (p.Arg516=) rs534398531 0.00001
NM_000268.4(NF2):c.1569A>G (p.Lys523=) rs1194010738 0.00001
NM_000268.4(NF2):c.162G>A (p.Leu54=) rs1369726524 0.00001
NM_000268.4(NF2):c.1638C>T (p.Ile546=) rs774264046 0.00001
NM_000268.4(NF2):c.1671T>C (p.Ala557=) rs759780271 0.00001
NM_000268.4(NF2):c.1752C>T (p.Ser584=) rs370999558 0.00001
NM_000268.4(NF2):c.1763G>A (p.Arg588Gln) rs766689587 0.00001
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600 0.00001
NM_000268.4(NF2):c.251A>G (p.His84Arg) rs773740023 0.00001
NM_000268.4(NF2):c.279C>T (p.Thr93=) rs758722464 0.00001
NM_000268.4(NF2):c.318A>G (p.Glu106=) rs535626069 0.00001
NM_000268.4(NF2):c.432C>T (p.Tyr144=) rs1060503667 0.00001
NM_000268.4(NF2):c.435C>T (p.Ala145=) rs955424447 0.00001
NM_000268.4(NF2):c.478C>T (p.Arg160Trp) rs150667239 0.00001
NM_000268.4(NF2):c.542C>T (p.Pro181Leu) rs1362524399 0.00001
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280 0.00001
NM_000268.4(NF2):c.685G>T (p.Gly229Cys) rs1028670573 0.00001
NM_000268.4(NF2):c.687C>A (p.Gly229=) rs1339795250 0.00001
NM_000268.4(NF2):c.71T>C (p.Val24Ala) rs773714780 0.00001
NM_000268.4(NF2):c.720G>T (p.Gly240=) rs769348972 0.00001
NM_000268.4(NF2):c.726C>T (p.His242=) rs1480040681 0.00001
NM_000268.4(NF2):c.72G>A (p.Val24=) rs761062232 0.00001
NM_000268.4(NF2):c.72G>C (p.Val24=) rs761062232 0.00001
NM_000268.4(NF2):c.738T>C (p.Pro246=) rs147665163 0.00001
NM_000268.4(NF2):c.798C>T (p.Tyr266=) rs917257652 0.00001
NM_000268.4(NF2):c.826C>T (p.Leu276=) rs764702893 0.00001
NM_000268.4(NF2):c.852G>A (p.Lys284=) rs1184031479 0.00001
NM_000268.4(NF2):c.882G>A (p.Lys294=) rs146166875 0.00001
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176 0.00001
NM_000268.4(NF2):c.930A>G (p.Arg310=) rs1408103989 0.00001
NM_000268.4(NF2):c.946T>C (p.Leu316=) rs1326342694 0.00001
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028 0.00001
NM_000268.4(NF2):c.1005G>A (p.Glu335=) rs2147070975
NM_000268.4(NF2):c.1008G>C (p.Arg336=)
NM_000268.4(NF2):c.1029G>A (p.Lys343=)
NM_000268.4(NF2):c.1038G>A (p.Arg346=)
NM_000268.4(NF2):c.1059G>A (p.Arg353=) rs1379674036
NM_000268.4(NF2):c.105C>T (p.Phe35=) rs976153071
NM_000268.4(NF2):c.1081C>T (p.Leu361=) rs1299012538
NM_000268.4(NF2):c.1092A>G (p.Lys364=) rs1601644296
NM_000268.4(NF2):c.1101A>G (p.Ala367=) rs1601644304
NM_000268.4(NF2):c.1131T>C (p.Ser377=)
NM_000268.4(NF2):c.1134G>A (p.Glu378=)
NM_000268.4(NF2):c.1140A>G (p.Thr380=)
NM_000268.4(NF2):c.1147C>T (p.Leu383=)
NM_000268.4(NF2):c.1149G>A (p.Leu383=) rs2147082336
NM_000268.4(NF2):c.1155T>C (p.Ala385=) rs745717285
NM_000268.4(NF2):c.1176G>A (p.Glu392=)
NM_000268.4(NF2):c.1179G>A (p.Glu393=) rs1601648277
NM_000268.4(NF2):c.1182G>A (p.Glu394=) rs1601648289
NM_000268.4(NF2):c.1197C>T (p.Ala399=) rs952523049
NM_000268.4(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.4(NF2):c.120G>A (p.Lys40=)
NM_000268.4(NF2):c.1215T>C (p.Ala405=)
NM_000268.4(NF2):c.1233C>A (p.Arg411=)
NM_000268.4(NF2):c.1245A>C (p.Thr415=)
NM_000268.4(NF2):c.1245A>G (p.Thr415=) rs2147083167
NM_000268.4(NF2):c.1257G>C (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1266G>A (p.Glu422=)
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.1298C>T (p.Ala433Val) rs779721863
NM_000268.4(NF2):c.1308G>T (p.Leu436=)
NM_000268.4(NF2):c.1312C>T (p.Leu438=)
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.1332A>C (p.Ser444=)
NM_000268.4(NF2):c.1341G>A (p.Arg447=) rs2066911364
NM_000268.4(NF2):c.1356T>C (p.Asp452=)
NM_000268.4(NF2):c.1360C>T (p.Leu454=) rs1274431013
NM_000268.4(NF2):c.1362G>A (p.Leu454=)
NM_000268.4(NF2):c.1368G>A (p.Gln456=)
NM_000268.4(NF2):c.1372C>T (p.Leu458=)
NM_000268.4(NF2):c.1374G>A (p.Leu458=)
NM_000268.4(NF2):c.1389G>A (p.Glu463=)
NM_000268.4(NF2):c.138C>A (p.Leu46=)
NM_000268.4(NF2):c.1395G>A (p.Glu465=) rs1556001388
NM_000268.4(NF2):c.1396C>A (p.Arg466=)
NM_000268.4(NF2):c.1399A>C (p.Arg467=)
NM_000268.4(NF2):c.1404C>G (p.Ala468=)
NM_000268.4(NF2):c.1416C>A (p.Leu472=)
NM_000268.4(NF2):c.1431C>A (p.Thr477=) rs2147093689
NM_000268.4(NF2):c.1431C>T (p.Thr477=)
NM_000268.4(NF2):c.144T>C (p.Asp48=)
NM_000268.4(NF2):c.145T>C (p.Leu49=)
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser) rs776076922
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1471T>C (p.Leu491=)
NM_000268.4(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.4(NF2):c.150G>A (p.Val50=) rs1601578932
NM_000268.4(NF2):c.1521C>T (p.Phe507=) rs994823423
NM_000268.4(NF2):c.1527C>T (p.Phe509=) rs2067026804
NM_000268.4(NF2):c.1533T>C (p.Asp511=) rs1601659271
NM_000268.4(NF2):c.153C>T (p.Cys51=)
NM_000268.4(NF2):c.1546C>A (p.Arg516=)
NM_000268.4(NF2):c.1551T>C (p.Leu517=)
NM_000268.4(NF2):c.1554C>T (p.Ser518=)
NM_000268.4(NF2):c.1584C>T (p.Tyr528=)
NM_000268.4(NF2):c.159T>A (p.Thr53=)
NM_000268.4(NF2):c.1605G>A (p.Leu535=)
NM_000268.4(NF2):c.1608G>A (p.Gln536=)
NM_000268.4(NF2):c.160C>T (p.Leu54=)
NM_000268.4(NF2):c.1614G>A (p.Gln538=)
NM_000268.4(NF2):c.1626C>T (p.Leu542=)
NM_000268.4(NF2):c.1660A>C (p.Arg554=)
NM_000268.4(NF2):c.1665G>A (p.Glu555=)
NM_000268.4(NF2):c.1683G>A (p.Leu561=) rs758955756
NM_000268.4(NF2):c.1683G>T (p.Leu561=) rs758955756
NM_000268.4(NF2):c.1692G>A (p.Glu564=)
NM_000268.4(NF2):c.1707T>C (p.Gly569=)
NM_000268.4(NF2):c.1722C>T (p.His574=) rs1041539951
NM_000268.4(NF2):c.1725T>C (p.Asn575=)
NM_000268.4(NF2):c.1731T>C (p.Ile577=)
NM_000268.4(NF2):c.1744T>C (p.Leu582=)
NM_000268.4(NF2):c.1762C>A (p.Arg588=) rs1341371726
NM_000268.4(NF2):c.1764A>C (p.Arg588=) rs1601688952
NM_000268.4(NF2):c.1764A>G (p.Arg588=)
NM_000268.4(NF2):c.1776T>C (p.Phe592=) rs1290530587
NM_000268.4(NF2):c.1779A>G (p.Glu593=) rs2147171983
NM_000268.4(NF2):c.177C>G (p.Thr59=) rs757125309
NM_000268.4(NF2):c.183C>T (p.Phe61=) rs2146853392
NM_000268.4(NF2):c.186T>C (p.Phe62=) rs373178836
NM_000268.4(NF2):c.190C>T (p.Leu64=) rs779218238
NM_000268.4(NF2):c.192G>A (p.Leu64=)
NM_000268.4(NF2):c.201A>G (p.Thr67=)
NM_000268.4(NF2):c.213A>G (p.Thr71=) rs2065662742
NM_000268.4(NF2):c.216G>A (p.Val72=) rs1601579272
NM_000268.4(NF2):c.216G>C (p.Val72=) rs1601579272
NM_000268.4(NF2):c.219C>T (p.Ala73=) rs2146854444
NM_000268.4(NF2):c.21C>T (p.Ser7=)
NM_000268.4(NF2):c.22C>A (p.Arg8Ser)
NM_000268.4(NF2):c.243A>T (p.Val81=)
NM_000268.4(NF2):c.252T>C (p.His84=) rs374512699
NM_000268.4(NF2):c.288C>T (p.Phe96=) rs1003303140
NM_000268.4(NF2):c.294C>G (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.294C>T (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.336G>A (p.Glu112=) rs2146872481
NM_000268.4(NF2):c.339C>T (p.Ile113=) rs2065732712
NM_000268.4(NF2):c.348T>C (p.His116=)
NM_000268.4(NF2):c.366A>G (p.Val122=) rs750431087
NM_000268.4(NF2):c.36C>T (p.Ser12=) rs371800843
NM_000268.4(NF2):c.393C>A (p.Ile131=)
NM_000268.4(NF2):c.402T>C (p.Pro134=) rs2065830830
NM_000268.4(NF2):c.402T>G (p.Pro134=) rs2065830830
NM_000268.4(NF2):c.405T>C (p.Pro135=)
NM_000268.4(NF2):c.420C>A (p.Leu140=) rs2146894238
NM_000268.4(NF2):c.420C>T (p.Leu140=)
NM_000268.4(NF2):c.423G>C (p.Leu141=)
NM_000268.4(NF2):c.448-4C>G rs760733256
NM_000268.4(NF2):c.453T>G (p.Gly151=) rs2146966325
NM_000268.4(NF2):c.468T>C (p.Ser156=)
NM_000268.4(NF2):c.478C>A (p.Arg160=)
NM_000268.4(NF2):c.492C>T (p.Ala164=) rs1307586355
NM_000268.4(NF2):c.498G>A (p.Glu166=)
NM_000268.4(NF2):c.501A>G (p.Glu167=) rs1480981635
NM_000268.4(NF2):c.504G>A (p.Leu168=) rs182990439
NM_000268.4(NF2):c.546A>G (p.Glu182=) rs1202105168
NM_000268.4(NF2):c.555G>A (p.Glu185=) rs1293410909
NM_000268.4(NF2):c.558G>A (p.Glu186=)
NM_000268.4(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.4(NF2):c.582G>A (p.Glu194=)
NM_000268.4(NF2):c.585C>T (p.His195=) rs2146973623
NM_000268.4(NF2):c.594A>T (p.Arg198=)
NM_000268.4(NF2):c.597C>T (p.Ala199=)
NM_000268.4(NF2):c.600G>A (p.Arg200=) rs1156687503
NM_000268.4(NF2):c.63G>T (p.Thr21=)
NM_000268.4(NF2):c.642G>A (p.Leu214=)
NM_000268.4(NF2):c.672C>T (p.Ile224=) rs1298953582
NM_000268.4(NF2):c.676-4A>G rs2147007478
NM_000268.4(NF2):c.678T>C (p.Asn226=)
NM_000268.4(NF2):c.696G>T (p.Leu232=)
NM_000268.4(NF2):c.699G>C (p.Leu233=) rs780003734
NM_000268.4(NF2):c.69C>T (p.Thr23=) rs2064716137
NM_000268.4(NF2):c.720G>A (p.Gly240=)
NM_000268.4(NF2):c.735C>T (p.Asp245=)
NM_000268.4(NF2):c.738T>A (p.Pro246=)
NM_000268.4(NF2):c.753C>T (p.Thr251=) rs2147009720
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.771G>C (p.Pro257=)
NM_000268.4(NF2):c.783C>A (p.Ile261=)
NM_000268.4(NF2):c.786A>G (p.Arg262=)
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.78C>T (p.Ile26=) rs2064716954
NM_000268.4(NF2):c.792C>T (p.Ile264=)
NM_000268.4(NF2):c.807G>A (p.Lys269=) rs2147011393
NM_000268.4(NF2):c.813T>C (p.Phe271=)
NM_000268.4(NF2):c.816T>A (p.Thr272=) rs1555997539
NM_000268.4(NF2):c.840T>C (p.Ile280=) rs1233245274
NM_000268.4(NF2):c.84C>T (p.Thr28=) rs1410448416
NM_000268.4(NF2):c.855T>C (p.Phe285=)
NM_000268.4(NF2):c.867G>A (p.Lys289=)
NM_000268.4(NF2):c.891C>G (p.Leu297=)
NM_000268.4(NF2):c.891C>T (p.Leu297=) rs755253391
NM_000268.4(NF2):c.901A>G (p.Ile301Val)
NM_000268.4(NF2):c.906G>C (p.Gly302=)
NM_000268.4(NF2):c.90C>T (p.Asp30=)
NM_000268.4(NF2):c.915T>C (p.Asp305=) rs1601636823
NM_000268.4(NF2):c.93C>A (p.Ala31=) rs1601516078
NM_000268.4(NF2):c.966A>T (p.Lys322Asn)
NM_000268.4(NF2):c.978G>A (p.Arg326=) rs1601637089
NM_000268.4(NF2):c.981G>A (p.Glu327=)
NM_000268.4(NF2):c.987G>A (p.Lys329=)
NM_000268.4(NF2):c.991A>C (p.Arg331=)
NM_000268.4(NF2):c.999G>A (p.Gln333=)
NM_000268.4(NF2):c.9G>A (p.Gly3=) rs1280487219
NM_000268.4(NF2):c.9G>C (p.Gly3=) rs1280487219

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