ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.1806A>G (p.Glu602=) rs370454753 0.00004
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn) rs373563053 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr) rs746994734 0.00004
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756 0.00002
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His) rs775206746 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu) rs587782220 0.00002
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu) rs750972729 0.00002
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys) rs587782893 0.00002
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763 0.00001
NM_001042492.3(NF1):c.1392G>A (p.Pro464=) rs201604273 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.2809T>G (p.Leu937Val) rs1567849181 0.00001
NM_001042492.3(NF1):c.2927C>T (p.Thr976Ile) rs755404523 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3030A>C (p.Gln1010His) rs1405071456 0.00001
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly) rs769941435 0.00001
NM_001042492.3(NF1):c.3380C>T (p.Thr1127Ile) rs562110311 0.00001
NM_001042492.3(NF1):c.3916C>A (p.Arg1306=) rs376576925 0.00001
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993 0.00001
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.4110+3A>G rs774669878 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met) rs876658776 0.00001
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro) rs745489489 0.00001
NM_001042492.3(NF1):c.5455G>A (p.Ala1819Thr) rs368998534 0.00001
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp) rs1555533609 0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.645C>T (p.Ser215=) rs746163138 0.00001
NM_001042492.3(NF1):c.6704+3A>G rs375560135 0.00001
NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr) rs1361250850 0.00001
NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe) rs876658775 0.00001
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg) rs773858629 0.00001
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00001
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp) rs878853915 0.00001
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln) rs533110479 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu) rs1555536347 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala) rs878853864
NM_001042492.3(NF1):c.1292C>T (p.Ala431Val)
NM_001042492.3(NF1):c.1381C>A (p.Arg461=) rs878853865
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001042492.3(NF1):c.1407A>G (p.Lys469=) rs2143958833
NM_001042492.3(NF1):c.1509T>C (p.Asp503=) rs1597698493
NM_001042492.3(NF1):c.1594C>T (p.Leu532=) rs2143986669
NM_001042492.3(NF1):c.1642-9A>G rs1597706581
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.2093C>T (p.Pro698Leu)
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu) rs199474777
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe) rs1567848794
NM_001042492.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_001042492.3(NF1):c.270G>A (p.Leu90=) rs2065717955
NM_001042492.3(NF1):c.2745C>A (p.Thr915=) rs759465116
NM_001042492.3(NF1):c.295A>C (p.Lys99Gln) rs2065791967
NM_001042492.3(NF1):c.3024A>C (p.Ala1008=) rs779490777
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala) rs2067091938
NM_001042492.3(NF1):c.3198-2A>C rs1131691089
NM_001042492.3(NF1):c.3363A>G (p.Glu1121=) rs2151434555
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3572C>A (p.Thr1191Lys)
NM_001042492.3(NF1):c.3999G>A (p.Glu1333=)
NM_001042492.3(NF1):c.4031A>G (p.Glu1344Gly)
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4223C>A (p.Ala1408Asp) rs2151461922
NM_001042492.3(NF1):c.4298C>T (p.Pro1433Leu) rs1310048288
NM_001042492.3(NF1):c.4320G>C (p.Lys1440Asn)
NM_001042492.3(NF1):c.4578-8G>C rs375758486
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.5152C>T (p.His1718Tyr) rs1555533381
NM_001042492.3(NF1):c.5540C>T (p.Pro1847Leu) rs1555533631
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser) rs1555533843
NM_001042492.3(NF1):c.5676A>T (p.Leu1892Phe) rs876658130
NM_001042492.3(NF1):c.586+10_586+15del rs1555607130
NM_001042492.3(NF1):c.6230A>G (p.Asp2077Gly) rs1555534684
NM_001042492.3(NF1):c.62T>C (p.Leu21Pro) rs1567814403
NM_001042492.3(NF1):c.6642+7A>G rs1597844162
NM_001042492.3(NF1):c.6728C>G (p.Ser2243Cys) rs2151558088
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465
NM_001042492.3(NF1):c.7189+9G>A rs1597851538
NM_001042492.3(NF1):c.730+5G>A rs1567826200
NM_001042492.3(NF1):c.732A>G (p.Glu244=)
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser) rs2070166426
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile) rs1555604874
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=) rs1555536359
NM_001042492.3(NF1):c.7519A>G (p.Thr2507Ala) rs1597862129
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr) rs1555536373
NM_001042492.3(NF1):c.7609T>A (p.Leu2537Met)
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=) rs1555536703
NM_001042492.3(NF1):c.7869+5G>A rs1555536725
NM_001042492.3(NF1):c.7970+4A>T
NM_001042492.3(NF1):c.7970+7A>G rs1597867052
NM_001042492.3(NF1):c.7990A>G (p.Lys2664Glu) rs2151584831
NM_001042492.3(NF1):c.8024C>G (p.Pro2675Arg)
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met) rs761214867
NM_001042492.3(NF1):c.8069A>T (p.Tyr2690Phe)
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.8261C>T (p.Ser2754Phe) rs2151587952

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.