ClinVar Miner

List of variants in gene NF1 reported by Mendelics

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Gene type:
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Total variants: 133
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HGVS dbSNP gnomAD frequency
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.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.2850+17T>C rs1410636379 0.00034
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
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_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
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.5470A>G (p.Ile1824Val) rs370858405 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
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.2659G>A (p.Ala887Thr) rs1251621684 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_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.1940A>C (p.His647Pro) rs1170252879
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.205-9_205-8del rs2143645174
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.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.5254A>G (p.Lys1752Glu) rs2069338262
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.6327C>G (p.Phe2109Leu) rs2069688250
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.6931C>A (p.Leu2311Met) rs1044698498
NM_001042492.3(NF1):c.7062+1G>T rs863224492
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser) rs774339063
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.814_819del (p.Ile272_Leu273del) rs2143785976
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

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