ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 492
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_001042492.3(NF1):c.*2829T>C rs1048317 0.65846
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.65316
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
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 0.49084
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 0.02535
NM_001042492.3(NF1):c.*2089G>A rs17881973 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001042492.3(NF1):c.*873A>T rs3058624 0.01966
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
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.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_001042492.3(NF1):c.4578-39A>G rs8072417 0.01018
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00844
NM_001042492.3(NF1):c.*498T>G rs9900729 0.00833
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 0.00426
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
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.340C>T (p.Leu114=) rs7207410 0.00309
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
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.846G>A (p.Gln282=) rs138840528 0.00149
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 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.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
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.*971T>A rs147515257 0.00069
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.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
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 0.00031
NM_001042492.3(NF1):c.*871A>T rs568276164 0.00028
NM_001042492.3(NF1):c.61-19T>C rs185325140 0.00025
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00024
NM_001042492.3(NF1):c.*2247T>C rs745818146 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.*1208C>T rs556230487 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001042492.3(NF1):c.*3266G>A rs548117626 0.00018
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.3871-15C>T rs200104394 0.00014
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.5322G>A (p.Gly1774=) rs201584313 0.00012
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 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.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.*541G>A rs563100361 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 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.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00006
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
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.4263G>A (p.Pro1421=) rs201648604 0.00005
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00005
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=) rs147522129 0.00005
NM_001042492.3(NF1):c.*1202A>C rs886052807 0.00004
NM_001042492.3(NF1):c.*2071G>A rs886052811 0.00004
NM_001042492.3(NF1):c.*506T>A rs886052804 0.00004
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn) rs373563053 0.00004
NM_001042492.3(NF1):c.2592C>T (p.Ser864=) rs761499485 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.3708+11A>C rs373751277 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001042492.3(NF1):c.4835+13A>G rs1034258238 0.00004
NM_001042492.3(NF1):c.4835+14T>C rs758851307 0.00004
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=) rs373685150 0.00004
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=) rs375776474 0.00004
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00004
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=) rs371578074 0.00004
NM_001042492.3(NF1):c.6600A>C (p.Thr2200=) rs747576584 0.00004
NM_001042492.3(NF1):c.6643-13T>C rs764601493 0.00004
NM_001042492.3(NF1):c.*2073T>C rs139460673 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.100G>A (p.Val34Ile) rs772995929 0.00003
NM_001042492.3(NF1):c.1182T>C (p.Phe394=) rs786202581 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.2916A>C (p.Leu972=) rs1210119104 0.00003
NM_001042492.3(NF1):c.3315-8T>C rs764783865 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.5269-18G>A rs371616556 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 0.00003
NM_001042492.3(NF1):c.7189+7A>G rs767151173 0.00003
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=) rs143289497 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.*2540T>G rs896039933 0.00002
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178 0.00002
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00002
NM_001042492.3(NF1):c.2458G>A (p.Val820Met) rs761408020 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=) rs747330799 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 0.00002
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala) rs142867979 0.00002
NM_001042492.3(NF1):c.587-20A>T rs776533188 0.00002
NM_001042492.3(NF1):c.6378C>T (p.Val2126=) rs760941036 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00002
NM_001042492.3(NF1):c.7457+8G>T rs376147282 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys) rs762169098 0.00002
NM_001042492.3(NF1):c.7615+7T>C rs779078444 0.00002
NM_001042492.3(NF1):c.8160+9A>C rs997202389 0.00002
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=) rs144635489 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 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.*887C>G rs2070712503 0.00001
NM_001042492.3(NF1):c.1062+7T>C rs979521240 0.00001
NM_001042492.3(NF1):c.1185+7G>A rs1322791959 0.00001
NM_001042492.3(NF1):c.1186-12C>G rs1473811436 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1356A>G (p.Gln452=) rs1324833228 0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592 0.00001
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135 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.2054C>G (p.Thr685Ser) rs876658190 0.00001
NM_001042492.3(NF1):c.2251+5A>G rs786201934 0.00001
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys) rs1383770460 0.00001
NM_001042492.3(NF1):c.2326-9T>A rs181838967 0.00001
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=) rs876660168 0.00001
NM_001042492.3(NF1):c.3197+3A>G rs1359512152 0.00001
NM_001042492.3(NF1):c.3198-4_3198-3dup rs1555614809 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547 0.00001
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala) rs750303863 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) rs746583007 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.3871-18A>G rs748424913 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.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=) rs864622406 0.00001
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln) rs370852681 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=) rs754023358 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=) rs864622747 0.00001
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe) rs775786295 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.5269-19C>T rs755620051 0.00001
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=) rs779104728 0.00001
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val) rs1160436761 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.6006+17A>G rs748186225 0.00001
NM_001042492.3(NF1):c.6006+4T>C rs754909198 0.00001
NM_001042492.3(NF1):c.6189A>G (p.Leu2063=) rs1060503911 0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=) rs780247942 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.681T>C (p.Tyr227=) rs745804540 0.00001
NM_001042492.3(NF1):c.6922-8T>C rs191255643 0.00001
NM_001042492.3(NF1):c.6927G>A (p.Ser2309=) rs763028083 0.00001
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln) rs1567618937 0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe) rs367734104 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465 0.00001
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=) rs1350755921 0.00001
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=) rs762081710 0.00001
NM_001042492.3(NF1):c.7110C>T (p.His2370=) rs201881479 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 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.7332A>G (p.Thr2444=) rs759005886 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly) rs752162999 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser) rs886052803 0.00001
NM_001042492.3(NF1):c.7533C>T (p.Val2511=) rs760733171 0.00001
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser) rs766496842 0.00001
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser) rs1555536370 0.00001
NM_001042492.3(NF1):c.7615+19T>C rs773687866 0.00001
NM_001042492.3(NF1):c.7616-15A>C rs952554990 0.00001
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His) rs778143477 0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys) rs372787215 0.00001
NM_001042492.3(NF1):c.7869+9T>C rs940367528 0.00001
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser) rs1283946778 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.7970+16T>G rs967311672 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 0.00001
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=) rs547090599 0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg) rs779034900 0.00001
NM_001042492.3(NF1):c.889-6del rs864622362 0.00001
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525 0.00001
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_001042492.3(NF1):c.*125del rs397754615
NM_001042492.3(NF1):c.*1425C>T rs886052808
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.*2132T>C rs551806545
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.*2884T>A rs886052814
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.*385C>T rs1597883440
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.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1062+2T>A
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1131dup (p.Asp378Ter)
NM_001042492.3(NF1):c.1185+20T>G rs2066522265
NM_001042492.3(NF1):c.1186-1G>C rs876660782
NM_001042492.3(NF1):c.1186-6C>T rs200684215
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1509T>C (p.Asp503=) rs1597698493
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.1721+6T>C rs2144005065
NM_001042492.3(NF1):c.1722-20T>G
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1846-8T>A rs886052799
NM_001042492.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_001042492.3(NF1):c.1873del (p.Leu625fs)
NM_001042492.3(NF1):c.2001+11_2001+13del rs750468034
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.3(NF1):c.2226C>G (p.Ala742=) rs1060503912
NM_001042492.3(NF1):c.2252-18G>C rs754583248
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr) rs786202504
NM_001042492.3(NF1):c.2325+1del
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.2409+15T>C rs2067039946
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2586C>T (p.Thr862=) rs1567848941
NM_001042492.3(NF1):c.2603_2604dup (p.Pro869fs)
NM_001042492.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2694G>A (p.Leu898=) rs1060503923
NM_001042492.3(NF1):c.270G>A (p.Leu90=) rs2065717955
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.288+1G>A rs1567816131
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.289-6T>C rs757074803
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=) rs786202077
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3496+14A>G rs2151434934
NM_001042492.3(NF1):c.3496+5G>T
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter) rs2151435633
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu) rs878853885
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr) rs1597722661
NM_001042492.3(NF1):c.3870+1G>T rs1131691075
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.389A>T (p.His130Leu) rs876660277
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_001042492.3(NF1):c.3975-12A>G rs750100751
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4066_4067del (p.Glu1356fs)
NM_001042492.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_001042492.3(NF1):c.4074C>A (p.Pro1358=) rs757398594
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4110+15A>G rs1331795815
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu) rs757953485
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr) rs2067662991
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro) rs876660162
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=) rs775018971
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=) rs876660089
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp) rs2151466343
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4791del (p.Thr1598fs)
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=) rs2151537601
NM_001042492.3(NF1):c.4889_4899del (p.Thr1630fs)
NM_001042492.3(NF1):c.4980_4981insTT (p.Lys1661fs) rs2069329774
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg) rs2151538392
NM_001042492.3(NF1):c.5158del (p.Glu1720fs) rs2151538733
NM_001042492.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_001042492.3(NF1):c.5278_5283del (p.Thr1760_Ala1761del)
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=) rs1555533613
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=) rs865839207
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr) rs786203416
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys) rs2151541898
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5620del (p.Tyr1874fs)
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs) rs876660212
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5813-12A>G rs768741646
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)
NM_001042492.3(NF1):c.5908dup (p.Arg1970fs)
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6007-9_6007-7del rs1274172088
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val) rs2069668717
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=) rs2069671357
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
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.6428-7C>G rs1597843613
NM_001042492.3(NF1):c.6459_6476del (p.Thr2154_Pro2159del)
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=) rs786203189
NM_001042492.3(NF1):c.6576_6577dup (p.Glu2193fs)
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=) rs886052801
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe) rs886052801
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu) rs886052802
NM_001042492.3(NF1):c.7062+12_7062+13del rs753202735
NM_001042492.3(NF1):c.7063-2A>T
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu) rs2069866148
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp) rs1567620403
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=) rs2069867490
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.7189+3A>C rs267606610
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs) rs878853913
NM_001042492.3(NF1):c.731-16T>C rs1227193781
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro) rs1060500302
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr) rs1555536690
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln) rs1060503906
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=) rs1597866857
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7970+5G>C rs1567627286
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8105dup (p.Tyr2702Ter) rs267606601
NM_001042492.3(NF1):c.8161-8C>T rs1425972521
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val) rs2070377037
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=) rs1597883029
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val) rs2151601629
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT rs2143871690
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950

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