ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs) rs2066509100
NM_001042492.3(NF1):c.1022_1023insGA (p.Ile342fs) rs2143874087
NM_001042492.3(NF1):c.1101del (p.Ser368fs) rs2143878939
NM_001042492.3(NF1):c.1358del (p.Gly453fs) rs2143914991
NM_001042492.3(NF1):c.160del (p.Val54fs) rs2143626844
NM_001042492.3(NF1):c.1691_1692insC (p.Ala565fs) rs2144004523
NM_001042492.3(NF1):c.1702_1703dup (p.Thr569fs) rs2144004677
NM_001042492.3(NF1):c.1714dup (p.Glu572fs) rs876660135
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1920del (p.Ser641fs) rs2144026762
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter) rs2066991605
NM_001042492.3(NF1):c.2009_2016dup (p.Cys673fs) rs2151425528
NM_001042492.3(NF1):c.2034_2035insC (p.Ile679fs) rs2151425611
NM_001042492.3(NF1):c.2082del (p.Leu695fs) rs2151425736
NM_001042492.3(NF1):c.2205T>A (p.Tyr735Ter)
NM_001042492.3(NF1):c.2248dup (p.Thr750fs) rs2151426166
NM_001042492.3(NF1):c.2409_2409+4delinsC rs2151427639
NM_001042492.3(NF1):c.2729del (p.Gly910fs) rs1555614313
NM_001042492.3(NF1):c.2831_2832insAAAA (p.Phe944fs) rs2151429795
NM_001042492.3(NF1):c.2847_2850+1del rs2151429826
NM_001042492.3(NF1):c.2858T>A (p.Leu953Ter) rs2151430481
NM_001042492.3(NF1):c.288_288+2del rs2143646778
NM_001042492.3(NF1):c.2957del (p.Ala986fs) rs2151430768
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3104del (p.Met1035fs) rs2151431751
NM_001042492.3(NF1):c.3114-1G>C rs1555614611
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs) rs2067134697
NM_001042492.3(NF1):c.350dup (p.Cys118fs) rs2143671563
NM_001042492.3(NF1):c.3556del (p.Ile1186fs) rs2151435407
NM_001042492.3(NF1):c.3574G>T (p.Glu1192Ter) rs1442037817
NM_001042492.3(NF1):c.3595del (p.Thr1199fs) rs2151435535
NM_001042492.3(NF1):c.3641_3645del (p.Met1214fs) rs2151435670
NM_001042492.3(NF1):c.3641dup (p.Met1214fs) rs2151435668
NM_001042492.3(NF1):c.376G>T (p.Glu126Ter) rs2143672030
NM_001042492.3(NF1):c.3778del (p.Met1260fs) rs2151437874
NM_001042492.3(NF1):c.3789del (p.Glu1264fs) rs2151437896
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter) rs2143672195
NM_001042492.3(NF1):c.3870_3871insTAG (p.Val1291Ter) rs2151438075
NM_001042492.3(NF1):c.3876T>G (p.Tyr1292Ter) rs2067193414
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4313del (p.Gly1438fs) rs2151462156
NM_001042492.3(NF1):c.4327del (p.Ser1443fs) rs2151462210
NM_001042492.3(NF1):c.4432_4433insAA (p.Phe1478Ter) rs2151464499
NM_001042492.3(NF1):c.4509dup (p.Val1504fs) rs2151464701
NM_001042492.3(NF1):c.4563T>G (p.Tyr1521Ter) rs2151464836
NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer) rs2065795756
NM_001042492.3(NF1):c.4981A>T (p.Lys1661Ter) rs2151537991
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.501T>A (p.Cys167Ter) rs2143707089
NM_001042492.3(NF1):c.5040T>A (p.Tyr1680Ter) rs1555533351
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly) rs1021835871
NM_001042492.3(NF1):c.5390del (p.Asn1797fs) rs2151541194
NM_001042492.3(NF1):c.546dup (p.Ile183fs) rs2143707749
NM_001042492.3(NF1):c.5473_5506del (p.Ile1825fs) rs2151541479
NM_001042492.3(NF1):c.5609+1G>T rs1131691117
NM_001042492.3(NF1):c.586G>T (p.Glu196Ter) rs876659079
NM_001042492.3(NF1):c.6004del (p.Gln2002fs) rs2151550785
NM_001042492.3(NF1):c.6100dup (p.Thr2034fs) rs2151553456
NM_001042492.3(NF1):c.6488del (p.Leu2163fs) rs2151556143
NM_001042492.3(NF1):c.654+2T>C rs2143774762
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs) rs2151556401
NM_001042492.3(NF1):c.6591del (p.Phe2197fs) rs2069707755
NM_001042492.3(NF1):c.6720_6721dup (p.Asn2241fs) rs2151558070
NM_001042492.3(NF1):c.6732del (p.Gln2245fs) rs2151558108
NM_001042492.3(NF1):c.6819+2T>G rs1135402894
NM_001042492.3(NF1):c.6820-2A>C rs2151559073
NM_001042492.3(NF1):c.693del (p.Phe231fs) rs2143777901
NM_001042492.3(NF1):c.7048del (p.Ile2350fs) rs2151561981
NM_001042492.3(NF1):c.7060A>T (p.Lys2354Ter) rs2069795315
NM_001042492.3(NF1):c.7171del (p.Val2391fs) rs2151565274
NM_001042492.3(NF1):c.7376del (p.Lys2459fs) rs2151574416
NM_001042492.3(NF1):c.7739-3_7743delCAGAAACT
NM_001042492.3(NF1):c.7788_7789insG (p.Ser2597fs) rs2151582311
NM_001042492.3(NF1):c.7814del (p.Leu2605fs) rs2151582390

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.