ClinVar Miner

List of variants in gene NF1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 495
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HGVS dbSNP gnomAD frequency
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.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
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.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
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.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.100G>A (p.Val34Ile) rs772995929 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.2747A>G (p.Asn916Ser) rs765043916 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.7003A>G (p.Thr2335Ala) rs370209920 0.00003
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278 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.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 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.7055A>G (p.Asn2352Ser) rs763082717 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.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001042492.3(NF1):c.1100G>A (p.Gly367Asp) rs1361040414 0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863 0.00001
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile) rs1389152072 0.00001
NM_001042492.3(NF1):c.1662G>T (p.Gln554His) rs147594815 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.1907C>G (p.Ser636Cys) rs780412565 0.00001
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser) rs375038808 0.00001
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 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.2345C>G (p.Ala782Gly) rs1203924788 0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val) rs1060500361 0.00001
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile) rs376666221 0.00001
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684 0.00001
NM_001042492.3(NF1):c.2690G>A (p.Arg897Gln) rs863224658 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln) rs776447057 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr) rs876659779 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn) rs1555614350 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met) rs786203132 0.00001
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201 0.00001
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn) rs774066804 0.00001
NM_001042492.3(NF1):c.3197+3A>G rs1359512152 0.00001
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly) rs201645318 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.3527G>T (p.Arg1176Ile) rs1227027709 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071 0.00001
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208 0.00001
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln) rs199474765 0.00001
NM_001042492.3(NF1):c.374G>A (p.Arg125His) rs149003051 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.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 0.00001
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys) rs1597635932 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.4306G>A (p.Glu1436Lys) rs876660428 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.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp) rs587782213 0.00001
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe) rs775786295 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.5455G>A (p.Ala1819Thr) rs368998534 0.00001
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val) rs746689492 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met) rs786203824 0.00001
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val) rs752569823 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser) rs757736155 0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 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.7045C>T (p.Arg2349Cys) rs56013763 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met) rs876659856 0.00001
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp) rs878853915 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 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.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.7493A>G (p.Lys2498Arg) rs1269264795 0.00001
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282 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.7643T>G (p.Ile2548Arg) rs864622266 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.7837C>T (p.Pro2613Ser) rs138839077 0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val) rs375990655 0.00001
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val) rs1555536748 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.7931C>G (p.Ala2644Gly) rs766494934 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.8378G>C (p.Gly2793Ala) rs1275285522 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg) rs779034900 0.00001
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly) rs764858484 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525 0.00001
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln) rs76015786 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met) rs2143873647
NM_001042492.3(NF1):c.110A>C (p.Glu37Ala)
NM_001042492.3(NF1):c.1185+20T>G rs2066522265
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
NM_001042492.3(NF1):c.1221C>G (p.His407Gln)
NM_001042492.3(NF1):c.1255A>G (p.Thr419Ala)
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser) rs786202145
NM_001042492.3(NF1):c.1284G>T (p.Lys428Asn)
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp) rs876658642
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser) rs370020114
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu) rs2066621372
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr) rs983914251
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1396C>T (p.Leu466Phe)
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr) rs1597698521
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg) rs775369084
NM_001042492.3(NF1):c.1562G>T (p.Ser521Ile)
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
NM_001042492.3(NF1):c.1607C>T (p.Ser536Leu) rs1555612859
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn) rs2144004244
NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser) rs2066928705
NM_001042492.3(NF1):c.1699G>A (p.Val567Ile) rs1555613200
NM_001042492.3(NF1):c.1721+6T>C rs2144005065
NM_001042492.3(NF1):c.1722-13T>G
NM_001042492.3(NF1):c.1722-20T>G
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser) rs1597710397
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr) rs1567846698
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_001042492.3(NF1):c.1940A>C (p.His647Pro) rs1170252879
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg) rs2066993430
NM_001042492.3(NF1):c.2001+4A>G
NM_001042492.3(NF1):c.2001+5G>T rs2144028091
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile) rs1597710853
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2057A>T (p.Lys686Ile)
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
NM_001042492.3(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
NM_001042492.3(NF1):c.2206A>C (p.Asn736His) rs1567847621
NM_001042492.3(NF1):c.2218G>C (p.Glu740Gln)
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp) rs2151426135
NM_001042492.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr) rs786202504
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2326-5T>G
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
NM_001042492.3(NF1):c.2410-5T>A rs2151428754
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.2457T>A (p.His819Gln)
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
NM_001042492.3(NF1):c.2518A>G (p.Met840Val) rs779931789
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu) rs1555614266
NM_001042492.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr) rs771012891
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu) rs1060500256
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.3(NF1):c.2707G>A (p.Val903Met)
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val) rs2067073386
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr) rs1567849219
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
NM_001042492.3(NF1):c.2851-3del rs876660379
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser) rs1323973848
NM_001042492.3(NF1):c.288+6T>A
NM_001042492.3(NF1):c.289-6T>C rs757074803
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys) rs1555614496
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr) rs1555614504
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile) rs2151431668
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly) rs1555614631
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr) rs1367746167
NM_001042492.3(NF1):c.3198-330A>G
NM_001042492.3(NF1):c.3200A>G (p.Asp1067Gly) rs746785904
NM_001042492.3(NF1):c.320C>T (p.Thr107Met) rs1567817857
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp) rs1341314304
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)
NM_001042492.3(NF1):c.3496+5G>T
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly) rs1555615017
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys) rs1567851424
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr) rs1555615102
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly) rs137854562
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_001042492.3(NF1):c.3788AAG[1] (p.Glu1264del)
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu) rs746583007
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr) rs1597722661
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile) rs2151438517
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.389A>T (p.His130Leu) rs876660277
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met) rs876660805
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala) rs1555615562
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe) rs876660506
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4005C>G (p.Asn1335Lys) rs2067448469
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser) rs1555617359
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met) rs1597744525
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His) rs1355988609
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly) rs1060500310
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr) rs1555618508
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys) rs1555618559
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp) rs1567862071
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr) rs2151462979
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu) rs199474755
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe) rs199474755
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
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.4455T>G (p.Asp1485Glu)
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser) rs1265291141
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.4469A>G (p.Asp1490Gly) rs2067663471
NM_001042492.3(NF1):c.4486C>A (p.Leu1496Ile)
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys) rs878853897
NM_001042492.3(NF1):c.4557G>T (p.Gly1519=)
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg) rs1597747170
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp) rs1555618861
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp) rs2151466343
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys) rs1060500303
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.480-2746A>G
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
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.4834A>G (p.Arg1612Gly) rs755137259
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met) rs1060500381
NM_001042492.3(NF1):c.4942A>T (p.Thr1648Ser) rs770558820
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His) rs786203241
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg) rs2151538392
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln) rs1555533367
NM_001042492.3(NF1):c.5125A>T (p.Ile1709Leu)
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val) rs876658602
NM_001042492.3(NF1):c.520G>A (p.Val174Ile) rs1555607084
NM_001042492.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_001042492.3(NF1):c.5234A>T (p.Lys1745Met)
NM_001042492.3(NF1):c.5250C>G (p.Asp1750Glu)
NM_001042492.3(NF1):c.5278_5283del (p.Thr1760_Ala1761del)
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr) rs529905904
NM_001042492.3(NF1):c.5325A>T (p.Gln1775His)
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu) rs2069380487
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr) rs1555533589
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val) rs1299780528
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe) rs1567612641
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.5615C>T (p.Ala1872Val)
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val) rs1465309384
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
NM_001042492.3(NF1):c.5812+489C>G
NM_001042492.3(NF1):c.5813-1042A>G
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val) rs775480099
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.6101C>T (p.Thr2034Ile) rs1567616695
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val) rs1555534614
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.619G>T (p.Val207Phe)
NM_001042492.3(NF1):c.6229G>A (p.Asp2077Asn) rs1597842830
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.632C>T (p.Ala211Val) rs1555608675
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro) rs2069690617
NM_001042492.3(NF1):c.650A>G (p.Glu217Gly)
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn) rs1597843887
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.6647G>T (p.Cys2216Phe) rs1567617669
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr) rs2069718829
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val) rs1044698498
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu) rs1597847958
NM_001042492.3(NF1):c.6958G>T (p.Val2320Leu)
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser) rs587781428
NM_001042492.3(NF1):c.7024C>G (p.Leu2342Val)
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys) rs2069794814
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del) rs786203558
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
NM_001042492.3(NF1):c.7064G>T (p.Ser2355Ile)
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu) rs2069866148
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val) rs1022562410
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.7153A>C (p.Asn2385His)
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
NM_001042492.3(NF1):c.718A>G (p.Thr240Ala)
NM_001042492.3(NF1):c.7232G>C (p.Arg2411Thr)
NM_001042492.3(NF1):c.7270A>G (p.Arg2424Gly)
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala) rs1597858568
NM_001042492.3(NF1):c.730+7A>G
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr) rs768404575
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro) rs1060500302
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile) rs876660126
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser) rs876658722
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val) rs786202540
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
NM_001042492.3(NF1):c.7465A>G (p.Lys2489Glu) rs1555536338
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser) rs2070167112
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu) rs1555536347
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp) rs375176282
NM_001042492.3(NF1):c.7499C>A (p.Ser2500Tyr) rs2070168165
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.7543A>G (p.Ser2515Gly) rs2070170553
NM_001042492.3(NF1):c.7555A>G (p.Arg2519Gly)
NM_001042492.3(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser) rs1597866331
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.7805A>G (p.Asn2602Ser) rs2151582358
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu) rs786203848
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln) rs750972729
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val) rs1555536721
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr) rs1597866802
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr) rs587781791
NM_001042492.3(NF1):c.7970+5G>C rs1567627286
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met) rs2070326229
NM_001042492.3(NF1):c.8080T>A (p.Ser2694Thr) rs876658554
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.8143G>A (p.Ala2715Thr) rs2070340047
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val) rs2070377037
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala) rs374004608
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe) rs1567628713
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser) rs1555538515
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala) rs779180729
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln) rs1326795798
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg) rs1597883056
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
NM_001042492.3(NF1):c.8449T>G (p.Ser2817Ala)
NM_001042492.3(NF1):c.8452G>T (p.Ala2818Ser) rs771006452
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
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.888+652G>A
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT rs2143871690
NM_001042492.3(NF1):c.889-21C>A rs753797445
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln) rs786202384
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn) rs2066505718
NM_001042492.3(NF1):c.905G>A (p.Ser302Asn) rs786202746
NM_001042492.3(NF1):c.914A>G (p.Lys305Arg)
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.928C>T (p.His310Tyr) rs1597680837
NM_001042492.3(NF1):c.92A>C (p.His31Pro)
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.967G>A (p.Ala323Thr) rs2143873082
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887

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