ClinVar Miner

List of variants in gene NF1 studied for Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 506
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02109
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.00994
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00396
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
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.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00125
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00084
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00037
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.61-19T>C rs185325140 0.00025
NM_001042492.3(NF1):c.3871-15C>T rs200104394 0.00017
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=) rs201584313 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00007
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 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.5523A>G (p.Gln1841=) rs151046636 0.00005
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00005
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.4835+13A>G rs1034258238 0.00004
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) rs864622373 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.7528A>G (p.Thr2510Ala) rs145794301 0.00004
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.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.2851-15T>G rs371120423 0.00003
NM_001042492.3(NF1):c.2916A>C (p.Leu972=) rs1210119104 0.00003
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His) rs753082620 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00003
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00003
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00003
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=) rs371578074 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.1939C>T (p.His647Tyr) rs776251084 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.367A>G (p.Thr123Ala) rs587781757 0.00002
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756 0.00002
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=) rs864622406 0.00002
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755 0.00002
NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg) rs778056258 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001042492.3(NF1):c.4434T>C (p.Phe1478=) rs1310523976 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.4835+14T>C rs758851307 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.587-20A>T rs776533188 0.00002
NM_001042492.3(NF1):c.623C>T (p.Ala208Val) rs758624540 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.6922-8T>C rs191255643 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.8073T>G (p.His2691Gln) rs375468032 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.1062+7T>C rs979521240 0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863 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.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.1356A>G (p.Gln452=) rs1324833228 0.00001
NM_001042492.3(NF1):c.1392G>A (p.Pro464=) rs201604273 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548 0.00001
NM_001042492.3(NF1):c.1662G>T (p.Gln554His) rs147594815 0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr) rs761559887 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.1870T>C (p.Phe624Leu) rs765060733 0.00001
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190 0.00001
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00001
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr) rs754025938 0.00001
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443 0.00001
NM_001042492.3(NF1):c.2251+5A>G rs786201934 0.00001
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr) rs758325102 0.00001
NM_001042492.3(NF1):c.2326-9T>A rs181838967 0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899 0.00001
NM_001042492.3(NF1):c.2458G>A (p.Val820Met) rs761408020 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.289-6T>C rs757074803 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val) rs771694969 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.3242C>G (p.Ala1081Gly) rs769941435 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser) rs371544233 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.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 0.00001
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463 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.3906T>G (p.Asp1302Glu) rs549058591 0.00001
NM_001042492.3(NF1):c.3974+19T>C rs372690119 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.4075C>A (p.Pro1359Thr) rs745931495 0.00001
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln) rs540108477 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 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.4252A>G (p.Ile1418Val) rs369345045 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.4421C>T (p.Ala1474Val) rs587781553 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.4690C>T (p.Leu1564Phe) rs1427435078 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.5269-18G>A rs371616556 0.00001
NM_001042492.3(NF1):c.5269-19C>T rs755620051 0.00001
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 0.00001
NM_001042492.3(NF1):c.529A>G (p.Ile177Val) rs766213678 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.5358G>A (p.Ser1786=) rs373313111 0.00001
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala) rs142867979 0.00001
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val) rs559910904 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser) rs876659849 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 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.631G>A (p.Ala211Thr) rs781519491 0.00001
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala) rs372169109 0.00001
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330 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.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.67A>G (p.Ile23Val) rs542824372 0.00001
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His) rs562367786 0.00001
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe) rs144287929 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.7030A>G (p.Thr2344Ala) rs1555535189 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=) rs1350755921 0.00001
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00001
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=) rs762081710 0.00001
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg) rs775476318 0.00001
NM_001042492.3(NF1):c.7142A>G (p.Asn2381Ser) rs878853912 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7302G>C (p.Gln2434His) rs766714610 0.00001
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=) rs759005886 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.7402A>G (p.Met2468Val) rs151211377 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.7513G>A (p.Ala2505Thr) rs786202955 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.7729T>C (p.Tyr2577His) rs778143477 0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys) rs372787215 0.00001
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val) rs776602307 0.00001
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser) rs138839077 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.7951C>T (p.Pro2651Ser) rs367858662 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.8296C>G (p.Leu2766Val) rs749647961 0.00001
NM_001042492.3(NF1):c.8377+4A>G rs1224454019 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 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_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001042492.3(NF1):c.1019C>G (p.Ser340Cys) rs771089333
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1062+2T>A rs2066510391
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1131dup (p.Asp378Ter) rs2544797164
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.1260+16A>G rs2066529931
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_001042492.3(NF1):c.136A>G (p.Ile46Val)
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001042492.3(NF1):c.1394G>A (p.Ser465Asn) rs2143958601
NM_001042492.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_001042492.3(NF1):c.1509T>C (p.Asp503=) rs1597698493
NM_001042492.3(NF1):c.1522C>T (p.Leu508Phe) rs1597698512
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala) rs2066928875
NM_001042492.3(NF1):c.1721+5A>G rs876658961
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.1813A>G (p.Ile605Val) rs2144016888
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu) rs1555613543
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1964G>A (p.Gly655Glu) rs1555613596
NM_001042492.3(NF1):c.2001+11_2001+13del rs750468034
NM_001042492.3(NF1):c.2002-14C>G rs928979051
NM_001042492.3(NF1):c.2206A>C (p.Asn736His) rs1567847621
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.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys) rs1383770460
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.237A>T (p.Leu79Phe) rs752208826
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.2441A>G (p.Lys814Arg)
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.2674A>T (p.Ser892Cys) rs746324091
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.2750T>A (p.Val917Asp)
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2851-14_2851-13insA
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser) rs1323973848
NM_001042492.3(NF1):c.288+1G>A rs1567816131
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.289-18T>G rs2065791450
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2962A>G (p.Ile988Val) rs587781936
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.3140A>G (p.Asp1047Gly) rs1555614631
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
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 rs786202564
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3551C>G (p.Thr1184Arg) rs752850053
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.3708+1G>A rs1420779915
NM_001042492.3(NF1):c.3766C>A (p.Leu1256Met)
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144
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.3937G>C (p.Asp1313His) rs2151438636
NM_001042492.3(NF1):c.3974+17C>G rs975843462
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.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
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.4110+3A>C rs774669878
NM_001042492.3(NF1):c.4110+6C>T rs2067451891
NM_001042492.3(NF1):c.4173+12G>C
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
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.4197G>T (p.Gln1399His) rs1355988609
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile) rs786201895
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4249G>C (p.Ala1417Pro)
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4358T>C (p.Val1453Ala) rs1306807858
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.4495A>C (p.Ile1499Leu) rs764654925
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=) rs775018971
NM_001042492.3(NF1):c.4515del (p.Ala1506fs) rs2151464719
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.4578-20_4578-18del rs1597748617
NM_001042492.3(NF1):c.4585A>T (p.Lys1529Ter)
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.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=) rs2151537601
NM_001042492.3(NF1):c.4889_4899del (p.Thr1630fs)
NM_001042492.3(NF1):c.4904A>G (p.Tyr1635Cys) rs786202866
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His) rs763413441
NM_001042492.3(NF1):c.4980_4981insTT (p.Lys1661fs) rs2069329774
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter) rs1567611375
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.5093C>T (p.Thr1698Ile) rs769469854
NM_001042492.3(NF1):c.5158del (p.Glu1720fs) rs2151538733
NM_001042492.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_001042492.3(NF1):c.5269-11C>T rs2151540713
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro) rs2069375050
NM_001042492.3(NF1):c.5278_5283del (p.Thr1760_Ala1761del)
NM_001042492.3(NF1):c.5286_5295del (p.Val1764fs)
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln) rs1555533559
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.532G>A (p.Glu178Lys)
NM_001042492.3(NF1):c.5404A>C (p.Thr1802Pro)
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys) rs786202177
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.5585T>G (p.Leu1862Ter) rs2151541881
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys) rs2151541898
NM_001042492.3(NF1):c.5609+5G>A rs1597832498
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) rs2151544795
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) rs863224835
NM_001042492.3(NF1):c.5945C>A (p.Thr1982Asn) rs1336219677
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.60+9031_60+9035del
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6007-9_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.6120T>C (p.Ser2040=) rs2069671357
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp) rs2151553540
NM_001042492.3(NF1):c.6147+3A>C
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val) rs2069684102
NM_001042492.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile) rs878853907
NM_001042492.3(NF1):c.6414G>A (p.Gln2138=)
NM_001042492.3(NF1):c.6428-7C>G rs1597843613
NM_001042492.3(NF1):c.6459_6476del (p.Thr2154_Pro2159del)
NM_001042492.3(NF1):c.6517dup (p.Ala2173fs)
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys) rs878853908
NM_001042492.3(NF1):c.655-16G>A
NM_001042492.3(NF1):c.656C>G (p.Ala219Gly) rs1160353919
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe) rs886052801
NM_001042492.3(NF1):c.6643-12C>T rs2151557324
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys) rs1024484381
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp) rs1392981001
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.6854dup (p.Tyr2285Ter) rs876657715
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile) rs786201902
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.6897del (p.Lys2300fs) rs2508763044
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6922-19A>G
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu) rs760528229
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr) rs786203881
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465
NM_001042492.3(NF1):c.7062+12_7062+13del rs753202735
NM_001042492.3(NF1):c.7063-2A>T rs1597851255
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg) rs2508779364
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.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.7190-11_7190-10insGTTT
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val) rs786201310
NM_001042492.3(NF1):c.7249C>G (p.Leu2417Val) rs2070075539
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs) rs878853913
NM_001042492.3(NF1):c.731-16T>C rs1227193781
NM_001042492.3(NF1):c.7345G>A (p.Val2449Ile)
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del) rs786203184
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro) rs1060500302
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala) rs876658722
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7472C>T (p.Thr2491Ile) rs2151576935
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser) rs2070167112
NM_001042492.3(NF1):c.749T>A (p.Phe250Tyr)
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.7519A>G (p.Thr2507Ala) rs1597862129
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7615+5G>C
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg) rs778973022
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.7804A>G (p.Asn2602Asp) rs150657839
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr) rs150657839
NM_001042492.3(NF1):c.7831A>G (p.Thr2611Ala) rs759424718
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>A (p.Leu2639Ile) rs1057518362
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys) rs754443238
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.7974_7977delinsAAA (p.His2658fs)
NM_001042492.3(NF1):c.8050A>C (p.Ile2684Leu) rs1555536913
NM_001042492.3(NF1):c.8108T>C (p.Leu2703Pro) rs2508835744
NM_001042492.3(NF1):c.8182G>A (p.Ala2728Thr) rs750603086
NM_001042492.3(NF1):c.8230C>T (p.Pro2744Ser) rs2070374568
NM_001042492.3(NF1):c.8324A>C (p.Asn2775Thr) rs772090874
NM_001042492.3(NF1):c.833C>T (p.Pro278Leu)
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val) rs2070377037
NM_001042492.3(NF1):c.8383G>A (p.Asp2795Asn) rs1475978079
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=) rs1597883029
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
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.88A>G (p.Thr30Ala) rs1555604881
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243

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.