ClinVar Miner

List of variants studied for neurofibromatosis by Mendelics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1575-67G>A rs140086 0.99995
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001042492.3(NF1):c.4836-21229G>C rs17884293 0.00215
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_000268.4(NF2):c.599+40C>T rs1292869497 0.00079
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_001042492.3(NF1):c.2850+17T>C rs1410636379 0.00034
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
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.613A>G (p.Met205Val) rs141629512 0.00016
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_000268.4(NF2):c.999+15G>A rs367716680 0.00011
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_000268.4(NF2):c.1737+1432G>A rs746764835 0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756 0.00002
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu) rs753997885 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg) rs1172780277 0.00001
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn) rs751414513 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.6642+42T>C rs760581466 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln) rs1555535407 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr) rs786202955 0.00001
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser) rs772090874 0.00001
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000268.4(NF2):c.-142del rs1569259403
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.223_240+8del rs1601579295
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.363+9G>T rs1601583861
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.493C>T (p.Gln165Ter) rs1601611973
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.876del (p.Asn293fs) rs2147033768
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894
NM_001042492.3(NF1):c.1185+7G>C rs1322791959
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs) rs1597682729
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1528-1G>T rs876660595
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs) rs2066928095
NM_001042492.3(NF1):c.1854del (p.Asp618fs) rs1597710342
NM_001042492.3(NF1):c.1888dup (p.Val630fs) rs1567846670
NM_001042492.3(NF1):c.1950del (p.Leu650fs) rs1597710658
NM_001042492.3(NF1):c.1989del (p.Asn664fs) rs1202226733
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.2244dup (p.Ser749fs) rs1597712758
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_001042492.3(NF1):c.2449dup (p.Met817fs) rs1567848755
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln) rs1555605393
NM_001042492.3(NF1):c.2851-2A>T rs2151430455
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly) rs1567849533
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp) rs1597717017
NM_001042492.3(NF1):c.3152del (p.Gly1051fs) rs2151432442
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-6_3198-1del rs1597718651
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr) rs1597718721
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe) rs1258842007
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter) rs2067124341
NM_001042492.3(NF1):c.3323del (p.Thr1108fs) rs2151434456
NM_001042492.3(NF1):c.333del (p.Lys111fs) rs1597635722
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs) rs1597719504
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.380_381insT (p.Asn128fs) rs2143672139
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3974+23A>T rs376217184
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs) rs1135402852
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter) rs1597735272
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly) rs1555618515
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter) rs758915600
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro) rs1597745583
NM_001042492.3(NF1):c.4381dup (p.Met1461fs) rs1597745689
NM_001042492.3(NF1):c.4431-1G>T rs1597746891
NM_001042492.3(NF1):c.4463del (p.Thr1488fs) rs1597746962
NM_001042492.3(NF1):c.4577+2T>C rs1597747184
NM_001042492.3(NF1):c.4578-12dup rs1597748630
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter) rs2067765689
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=) rs755137259
NM_001042492.3(NF1):c.4836-7203TGT[3] rs773381280
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys) rs1555607073
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter) rs1597829913
NM_001042492.3(NF1):c.5079del (p.His1693fs) rs1597829969
NM_001042492.3(NF1):c.5269-2A>T rs1555533548
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs) rs1597832021
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter) rs1597832235
NM_001042492.3(NF1):c.5609+1G>T rs1131691117
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001042492.3(NF1):c.5773del (p.Glu1925fs) rs2151544918
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs) rs1481408918
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe) rs1173859882
NM_001042492.3(NF1):c.5847del (p.Met1949fs) rs1597840055
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.61-2A>T rs1131691100
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs) rs1597843096
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser) rs1597625794
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln) rs1135402891
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val) rs1555534886
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter) rs2069718249
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.7062+1G>T rs863224492
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7458-2_7459del rs1597862010
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg) rs754511534
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs) rs1597865858
NM_001042492.3(NF1):c.7923del (p.Glu2641fs) rs1597866921
NM_001042492.3(NF1):c.7971-1G>T rs1417908560
NM_001042492.3(NF1):c.8377+6509A>T rs1343721620
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter) rs753054046
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001042492.3(NF1):c.889-2A>T rs878853922
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs) rs2145964108
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs) rs2146010204

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.