ClinVar Miner

List of variants in gene NF1 studied for Neurofibromatosis, familial spinal

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 195
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_001042492.3(NF1):c.*2829T>C rs1048317 0.65185
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.64686
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.57005
NM_001042492.3(NF1):c.288+41G>A rs2952976 0.56461
NM_001042492.3(NF1):c.1641+39T>C rs2905880 0.52895
NM_001042492.3(NF1):c.1393-32T>C rs2905876 0.52881
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_001042492.3(NF1):c.7458-29G>A rs964288 0.49344
NM_001042492.3(NF1):c.*2265C>G rs1800845 0.48515
NM_001042492.3(NF1):c.*2201G>A rs7406983 0.46089
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_001042492.3(NF1):c.3496+33C>A rs2066736 0.40732
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001042492.3(NF1):c.4431-46G>C rs17881285 0.05624
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02390
NM_001042492.3(NF1):c.*2089G>A rs17881973 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02109
NM_001042492.3(NF1):c.*873A>T rs3058624 0.01881
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01813
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01502
NM_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001042492.3(NF1):c.*871del rs759306393 0.01312
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.00994
NM_001042492.3(NF1):c.4578-39A>G rs8072417 0.00956
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00790
NM_001042492.3(NF1):c.*498T>G rs9900729 0.00778
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00396
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00283
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00237
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00234
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00197
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.*126G>A rs184715593 0.00185
NM_001042492.3(NF1):c.8161-45A>C rs17879551 0.00176
NM_001042492.3(NF1):c.*582T>G rs532984264 0.00169
NM_001042492.3(NF1):c.*1481A>G rs150702919 0.00160
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00123
NM_001042492.3(NF1):c.*1899A>G rs547663480 0.00100
NM_001042492.3(NF1):c.*29A>G rs139147882 0.00096
NM_001042492.3(NF1):c.*971T>A rs147515257 0.00095
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00084
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.*875T>A rs886052806 0.00080
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.*3189G>A rs548353495 0.00071
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.*2566C>T rs545937364 0.00053
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.*1164G>A rs140110377 0.00034
NM_001042492.3(NF1):c.*3091A>C rs570154156 0.00032
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00029
NM_001042492.3(NF1):c.*871A>T rs568276164 0.00028
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00027
NM_001042492.3(NF1):c.*2247T>C rs745818146 0.00021
NM_001042492.3(NF1):c.*1208C>T rs556230487 0.00019
NM_001042492.3(NF1):c.*3266G>A rs548117626 0.00018
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00018
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00017
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.*3227A>G rs1050612282 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00011
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001042492.3(NF1):c.*160A>T rs17882413 0.00009
NM_001042492.3(NF1):c.*3248G>A rs527971565 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.*541G>A rs563100361 0.00008
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.1392+5G>T rs199999754 0.00007
NM_001042492.3(NF1):c.1392+6A>T rs200798969 0.00007
NM_001042492.3(NF1):c.3727C>T (p.Leu1243=) rs750993436 0.00007
NM_001042492.3(NF1):c.*101T>C rs962788938 0.00006
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00006
NM_001042492.3(NF1):c.*1202A>C rs886052807 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=) rs786202077 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=) rs147522129 0.00005
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00005
NM_001042492.3(NF1):c.*2071G>A rs886052811 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00004
NM_001042492.3(NF1):c.6600A>C (p.Thr2200=) rs747576584 0.00004
NM_001042492.3(NF1):c.*2073T>C rs139460673 0.00003
NM_001042492.3(NF1):c.*2132T>C rs551806545 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.*506T>A rs886052804 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_001042492.3(NF1):c.3315-8T>C rs764783865 0.00003
NM_001042492.3(NF1):c.3975-12A>G rs750100751 0.00003
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00003
NM_001042492.3(NF1):c.6643-13T>C rs764601493 0.00003
NM_001042492.3(NF1):c.864G>C (p.Val288=) rs201181517 0.00003
NM_001042492.3(NF1):c.*194A>C rs1445645953 0.00002
NM_001042492.3(NF1):c.*385C>T rs1597883440 0.00002
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178 0.00002
NM_001042492.3(NF1):c.7457+8G>T rs376147282 0.00002
NM_001042492.3(NF1):c.*1150C>T rs577642473 0.00001
NM_001042492.3(NF1):c.*1187C>A rs1184430338 0.00001
NM_001042492.3(NF1):c.*124C>T rs535911128 0.00001
NM_001042492.3(NF1):c.*1425C>T rs886052808 0.00001
NM_001042492.3(NF1):c.*2540T>G rs896039933 0.00001
NM_001042492.3(NF1):c.*2884T>A rs886052814 0.00001
NM_001042492.3(NF1):c.*887C>G rs2070712503 0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871 0.00001
NM_001042492.3(NF1):c.1846-8T>A rs886052799 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.205-13T>A rs886052797 0.00001
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=) rs876660168 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=) rs753036396 0.00001
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591 0.00001
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=) rs779104728 0.00001
NM_001042492.3(NF1):c.6189A>G (p.Leu2063=) rs1060503911 0.00001
NM_001042492.3(NF1):c.6378C>T (p.Val2126=) rs760941036 0.00001
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=) rs786203189 0.00001
NM_001042492.3(NF1):c.6927G>A (p.Ser2309=) rs763028083 0.00001
NM_001042492.3(NF1):c.7110C>T (p.His2370=) rs201881479 0.00001
NM_001042492.3(NF1):c.730+16dup rs373999174 0.00001
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=) rs369754180 0.00001
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser) rs886052803 0.00001
NM_001042492.3(NF1):c.7616-15A>C rs952554990 0.00001
NM_001042492.3(NF1):c.*125del rs397754615
NM_001042492.3(NF1):c.*1446T>C rs886052809
NM_001042492.3(NF1):c.*1479A>C rs866235175
NM_001042492.3(NF1):c.*1987C>T rs886052810
NM_001042492.3(NF1):c.*2010A>G rs2070728204
NM_001042492.3(NF1):c.*2215_*2219del rs201032889
NM_001042492.3(NF1):c.*2638_*2646delinsTTATG rs886052813
NM_001042492.3(NF1):c.*2777C>A rs185015732
NM_001042492.3(NF1):c.*2777C>T rs185015732
NM_001042492.3(NF1):c.*3174A>C rs886052815
NM_001042492.3(NF1):c.*3514G>A rs574282086
NM_001042492.3(NF1):c.*3514G>C rs574282086
NM_001042492.3(NF1):c.*3514G>T rs574282086
NM_001042492.3(NF1):c.*584G>C rs190144445
NM_001042492.3(NF1):c.*584G>T rs190144445
NM_001042492.3(NF1):c.*585G>A rs372804411
NM_001042492.3(NF1):c.*585G>T rs372804411
NM_001042492.3(NF1):c.*859AT[7] rs369548314
NM_001042492.3(NF1):c.*859AT[9] rs369548314
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_001042492.3(NF1):c.1873del (p.Leu625fs) rs2508140575
NM_001042492.3(NF1):c.2226C>G (p.Ala742=) rs1060503912
NM_001042492.3(NF1):c.2409+15T>C rs2067039946
NM_001042492.3(NF1):c.270G>A (p.Leu90=) rs2065717955
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=) rs876660089
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=) rs1555533613
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=) rs865839207
NM_001042492.3(NF1):c.6006+4T>C rs754909198
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro) rs137854561
NM_001042492.3(NF1):c.6576_6577dup (p.Glu2193fs) rs2508754122
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=) rs886052801
NM_001042492.3(NF1):c.681T>C (p.Tyr227=) rs745804540
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu) rs886052802
NM_001042492.3(NF1):c.7189+3A>C rs267606610
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.8105dup (p.Tyr2702Ter) rs267606601
NM_001042492.3(NF1):c.8161-8C>T rs1425972521

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.