ClinVar Miner

List of variants in gene NF1 reported as uncertain significance for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 598
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val) rs200022550 0.00053
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001042492.3(NF1):c.61-13del rs1215659707 0.00013
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667 0.00012
NM_001042492.3(NF1):c.3621A>G (p.Arg1207=) rs141390152 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001042492.3(NF1):c.4836-3T>C rs372460369 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.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_001042492.3(NF1):c.*1A>C rs876658388 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 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.2188A>T (p.Asn730Tyr) rs758893131 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.2991-4A>G rs754414489 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001042492.3(NF1):c.3690G>T (p.Val1230=) rs183296277 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile) rs148540952 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His) rs864622065 0.00004
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala) rs145794301 0.00004
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu) rs760550772 0.00004
NM_001042492.3(NF1):c.898C>T (p.Leu300=) rs786201926 0.00004
NM_001042492.3(NF1):c.100G>A (p.Val34Ile) rs772995929 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142 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.2821A>G (p.Ile941Val) rs876659888 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His) rs775206746 0.00003
NM_001042492.3(NF1):c.4835+5G>C rs786201306 0.00003
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala) rs770558820 0.00003
NM_001042492.3(NF1):c.6022G>A (p.Asp2008Asn) rs786201924 0.00003
NM_001042492.3(NF1):c.6642+4T>C rs587781687 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 0.00003
NM_001042492.3(NF1):c.7458-7C>T rs758106590 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr) rs752541243 0.00003
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser) rs199878086 0.00003
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala) rs587782233 0.00002
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys) rs876660344 0.00002
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586 0.00002
NM_001042492.3(NF1):c.1701A>G (p.Val567=) rs786203819 0.00002
NM_001042492.3(NF1):c.1955G>A (p.Arg652His) rs587778549 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.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.2458G>A (p.Val820Met) rs761408020 0.00002
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala) rs587781757 0.00002
NM_001042492.3(NF1):c.3765A>G (p.Gln1255=) rs766896025 0.00002
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993 0.00002
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756 0.00002
NM_001042492.3(NF1):c.4110+4T>C rs587781700 0.00002
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu) rs753997885 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His) rs763413441 0.00002
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser) rs767500770 0.00002
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 0.00002
NM_001042492.3(NF1):c.529A>G (p.Ile177Val) rs766213678 0.00002
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala) rs142867979 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu) rs587782220 0.00002
NM_001042492.3(NF1):c.623C>T (p.Ala208Val) rs758624540 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.7838C>T (p.Pro2613Leu) rs750972729 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys) rs587782893 0.00002
NM_001042492.3(NF1):c.1062+6A>G rs1060500291 0.00001
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103 0.00001
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948 0.00001
NM_001042492.3(NF1):c.1153C>T (p.Arg385Cys) rs1322986962 0.00001
NM_001042492.3(NF1):c.1243C>T (p.His415Tyr) rs1415155749 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1392G>A (p.Pro464=) rs201604273 0.00001
NM_001042492.3(NF1):c.1410A>C (p.Glu470Asp) rs786203090 0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871 0.00001
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084 0.00001
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548 0.00001
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696 0.00001
NM_001042492.3(NF1):c.1662G>T (p.Gln554His) rs147594815 0.00001
NM_001042492.3(NF1):c.1756A>C (p.Thr586Pro) rs876659242 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.1921A>G (p.Ser641Gly) rs769154907 0.00001
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr) rs142079728 0.00001
NM_001042492.3(NF1):c.1972C>T (p.Leu658Phe) rs763901597 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.1999A>G (p.Met667Val) rs749833271 0.00001
NM_001042492.3(NF1):c.2002-14C>T rs928979051 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.2189A>C (p.Asn730Thr) rs778033578 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2251+5A>G rs786201934 0.00001
NM_001042492.3(NF1):c.2326-12C>T rs1028639542 0.00001
NM_001042492.3(NF1):c.2342A>T (p.His781Leu) rs199474763 0.00001
NM_001042492.3(NF1):c.2410-8G>A rs1060500270 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.2564G>C (p.Arg855Thr) rs786203716 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2576G>C (p.Gly859Ala) rs876659829 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu) rs767159555 0.00001
NM_001042492.3(NF1):c.2618G>A (p.Arg873His) rs949092641 0.00001
NM_001042492.3(NF1):c.2629A>G (p.Met877Val) rs764950557 0.00001
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr) rs372049168 0.00001
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile) rs376666221 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.2902A>G (p.Met968Val) rs587781499 0.00001
NM_001042492.3(NF1):c.2968A>C (p.Thr990Pro) rs876658299 0.00001
NM_001042492.3(NF1):c.2971A>G (p.Met991Val) rs1268543864 0.00001
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met) rs786203132 0.00001
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val) rs771694969 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 0.00001
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly) rs757222815 0.00001
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys) rs587781725 0.00001
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser) rs371544233 0.00001
NM_001042492.3(NF1):c.3485T>G (p.Met1162Arg) rs200732832 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.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3619A>C (p.Arg1207=) rs202208560 0.00001
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 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.3871-4G>C rs558421445 0.00001
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591 0.00001
NM_001042492.3(NF1):c.3975-4G>A rs760207624 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.4118G>A (p.Cys1373Tyr) rs786202990 0.00001
NM_001042492.3(NF1):c.4120C>T (p.His1374Tyr) rs764123241 0.00001
NM_001042492.3(NF1):c.4153A>G (p.Lys1385Glu) rs1259436033 0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys) rs876660428 0.00001
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser) rs199474754 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.4417G>A (p.Asp1473Asn) rs587781790 0.00001
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met) rs876658776 0.00001
NM_001042492.3(NF1):c.4489T>C (p.Ser1497Pro) rs763266925 0.00001
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val) rs764654925 0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser) rs587781445 0.00001
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn) rs751414513 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala) rs371192107 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.4948C>T (p.Pro1650Ser) rs1402198290 0.00001
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys) rs876659922 0.00001
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr) rs756450772 0.00001
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro) rs745489489 0.00001
NM_001042492.3(NF1):c.5126T>C (p.Ile1709Thr) rs876660316 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu) rs766727694 0.00001
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile) rs778427434 0.00001
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val) rs559910904 0.00001
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu) rs753529924 0.00001
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu) rs786202459 0.00001
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser) rs876659849 0.00001
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val) rs146523293 0.00001
NM_001042492.3(NF1):c.5753A>G (p.Asn1918Ser) rs534249104 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.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001042492.3(NF1):c.587-3C>T rs375188075 0.00001
NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val) rs876658484 0.00001
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile) rs755791578 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg) rs749567006 0.00001
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=) rs771835288 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe) rs876658775 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.703T>C (p.Tyr235His) rs864622465 0.00001
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7241A>G (p.His2414Arg) rs876659855 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met) rs876659856 0.00001
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=) rs1555536126 0.00001
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly) rs143474365 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.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7510C>G (p.Leu2504Val) rs876658333 0.00001
NM_001042492.3(NF1):c.7600A>G (p.Thr2534Ala) rs779737221 0.00001
NM_001042492.3(NF1):c.7616-10T>C rs2070272477 0.00001
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg) rs864622266 0.00001
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro) rs767458044 0.00001
NM_001042492.3(NF1):c.7668G>C (p.Arg2556Ser) rs876659035 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_001042492.3(NF1):c.7742C>G (p.Thr2581Ser) rs757632129 0.00001
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His) rs774781617 0.00001
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile) rs786203848 0.00001
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg) rs587781502 0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val) rs375990655 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro) rs876658554 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.8378-4C>T rs587782700 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.8495G>A (p.Arg2832His) rs587781523 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042492.3(NF1):c.91C>T (p.His31Tyr) rs786202864 0.00001
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_001042492.3(NF1):c.1045A>G (p.Met349Val) rs776050648
NM_001042492.3(NF1):c.1080A>C (p.Pro360=) rs777642846
NM_001042492.3(NF1):c.1120G>A (p.Asp374Asn) rs876658666
NM_001042492.3(NF1):c.1121A>T (p.Asp374Val) rs876660856
NM_001042492.3(NF1):c.1141G>A (p.Val381Ile) rs876660276
NM_001042492.3(NF1):c.1154G>C (p.Arg385Pro) rs1350329837
NM_001042492.3(NF1):c.1186-17_1186-7del rs2143884997
NM_001042492.3(NF1):c.1190G>C (p.Cys397Ser) rs786201937
NM_001042492.3(NF1):c.1214C>T (p.Thr405Ile) rs1555611082
NM_001042492.3(NF1):c.1226T>A (p.Val409Glu) rs876660378
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala) rs786203038
NM_001042492.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_001042492.3(NF1):c.1261-4C>G rs587781820
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.1330G>C (p.Gly444Arg) rs1162173842
NM_001042492.3(NF1):c.1352T>C (p.Val451Ala) rs747466938
NM_001042492.3(NF1):c.1358G>A (p.Gly453Asp) rs876660915
NM_001042492.3(NF1):c.1358G>T (p.Gly453Val) rs876660915
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.1376C>A (p.Ala459Glu) rs1131691070
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1393-9T>C rs1314978150
NM_001042492.3(NF1):c.1439A>C (p.Lys480Thr) rs587781675
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp) rs2066786672
NM_001042492.3(NF1):c.1529A>G (p.Asn510Ser) rs876660091
NM_001042492.3(NF1):c.1538A>G (p.Lys513Arg) rs876659336
NM_001042492.3(NF1):c.1582G>A (p.Gly528Arg) rs2143986428
NM_001042492.3(NF1):c.1592A>T (p.Gln531Leu) rs2143986626
NM_001042492.3(NF1):c.1609C>T (p.His537Tyr) rs786203860
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1721+5A>G rs876658961
NM_001042492.3(NF1):c.175A>G (p.Thr59Ala) rs1567814586
NM_001042492.3(NF1):c.176C>G (p.Thr59Ser) rs876659891
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_001042492.3(NF1):c.1865G>A (p.Cys622Tyr) rs535869486
NM_001042492.3(NF1):c.1867C>T (p.His623Tyr) rs759555122
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_001042492.3(NF1):c.1931C>A (p.Ser644Tyr) rs1174202288
NM_001042492.3(NF1):c.1996T>C (p.Ser666Pro) rs876659281
NM_001042492.3(NF1):c.1996T>G (p.Ser666Ala) rs876659281
NM_001042492.3(NF1):c.2001+3C>G rs876659863
NM_001042492.3(NF1):c.2002-4_2002-3del rs786203664
NM_001042492.3(NF1):c.2002-5C>G rs1165625614
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser) rs758691069
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln) rs786201768
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2107G>A (p.Val703Ile) rs876659251
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr) rs876658232
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.3(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_001042492.3(NF1):c.2221T>A (p.Phe741Ile) rs533819802
NM_001042492.3(NF1):c.2230G>A (p.Val744Ile) rs786201833
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.2251+5A>T rs786201934
NM_001042492.3(NF1):c.2261C>G (p.Ala754Gly) rs1555613912
NM_001042492.3(NF1):c.2281G>C (p.Ala761Pro) rs786202504
NM_001042492.3(NF1):c.2306C>G (p.Pro769Arg) rs786203543
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.239A>G (p.Tyr80Cys) rs4795581
NM_001042492.3(NF1):c.2408A>G (p.Gln803Arg) rs786202976
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.2434A>G (p.Ile812Val) rs587781899
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.2456A>C (p.His819Pro) rs786202297
NM_001042492.3(NF1):c.2517C>A (p.Asn839Lys) rs876659543
NM_001042492.3(NF1):c.2555T>G (p.Leu852Arg) rs876659440
NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro) rs587778550
NM_001042492.3(NF1):c.2594C>T (p.Pro865Leu) rs786203084
NM_001042492.3(NF1):c.263A>G (p.Asp88Gly) rs2143646326
NM_001042492.3(NF1):c.2658C>G (p.Asn886Lys) rs781549970
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.2683A>G (p.Met895Val) rs876659129
NM_001042492.3(NF1):c.2727G>A (p.Val909=) rs2151429530
NM_001042492.3(NF1):c.2851-10C>G rs1555614412
NM_001042492.3(NF1):c.2851-3del rs876660379
NM_001042492.3(NF1):c.2885A>G (p.Glu962Gly) rs876659474
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_001042492.3(NF1):c.2957C>T (p.Ala986Val) rs876659417
NM_001042492.3(NF1):c.2962A>G (p.Ile988Val) rs587781936
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.3(NF1):c.3016G>T (p.Val1006Phe) rs1060500383
NM_001042492.3(NF1):c.3051A>C (p.Gln1017His) rs201891488
NM_001042492.3(NF1):c.3070G>A (p.Ala1024Thr) rs786203657
NM_001042492.3(NF1):c.3074G>A (p.Arg1025Lys) rs876659876
NM_001042492.3(NF1):c.3114-3T>C rs773097190
NM_001042492.3(NF1):c.3193A>C (p.Thr1065Pro)
NM_001042492.3(NF1):c.3198-3C>A rs777759972
NM_001042492.3(NF1):c.3198-5_3198-3del rs2067120967
NM_001042492.3(NF1):c.3350G>A (p.Cys1117Tyr) rs876660762
NM_001042492.3(NF1):c.3362A>C (p.Glu1121Ala) rs757222815
NM_001042492.3(NF1):c.3402G>A (p.Met1134Ile) rs587782701
NM_001042492.3(NF1):c.3407G>A (p.Arg1136Gln) rs868407539
NM_001042492.3(NF1):c.3478G>T (p.Gly1160Cys) rs786202815
NM_001042492.3(NF1):c.3496+5G>C rs786202564
NM_001042492.3(NF1):c.3497-5A>G rs876660405
NM_001042492.3(NF1):c.3533C>G (p.Thr1178Arg) rs1555615025
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val) rs786203658
NM_001042492.3(NF1):c.3550A>C (p.Thr1184Pro) rs2151435398
NM_001042492.3(NF1):c.355C>T (p.His119Tyr) rs1555606066
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.364C>T (p.His122Tyr) rs587782107
NM_001042492.3(NF1):c.3653A>G (p.Gln1218Arg) rs876659541
NM_001042492.3(NF1):c.3689T>C (p.Val1230Ala) rs587782820
NM_001042492.3(NF1):c.3711T>G (p.Asp1237Glu) rs876659917
NM_001042492.3(NF1):c.3733A>G (p.Thr1245Ala) rs786203616
NM_001042492.3(NF1):c.3733A>T (p.Thr1245Ser) rs786203616
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg) rs1555615453
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3796G>C (p.Glu1266Gln) rs876660667
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.3(NF1):c.3813G>A (p.Met1271Ile) rs876658565
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr) rs2151438011
NM_001042492.3(NF1):c.3867C>G (p.Phe1289Leu) rs138186428
NM_001042492.3(NF1):c.3868A>G (p.Lys1290Glu) rs876658521
NM_001042492.3(NF1):c.3871-4G>A rs558421445
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3893A>G (p.Gln1298Arg) rs786203509
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.3932C>T (p.Ser1311Phe) rs587782894
NM_001042492.3(NF1):c.3943C>A (p.Gln1315Lys) rs2067194846
NM_001042492.3(NF1):c.3953G>A (p.Ser1318Asn) rs587781900
NM_001042492.3(NF1):c.3965A>T (p.Asp1322Val) rs1555615565
NM_001042492.3(NF1):c.3975-5dup rs786202231
NM_001042492.3(NF1):c.3975-8T>C rs1470107394
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe) rs876660506
NM_001042492.3(NF1):c.3992G>A (p.Ser1331Asn) rs1567858266
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4004A>G (p.Asn1335Ser) rs1555617304
NM_001042492.3(NF1):c.4015C>G (p.Leu1339Val) rs876660466
NM_001042492.3(NF1):c.4018C>T (p.Leu1340Phe) rs876658268
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg) rs786201844
NM_001042492.3(NF1):c.4069T>A (p.Phe1357Ile) rs1207255352
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4138G>C (p.Ala1380Pro) rs876658191
NM_001042492.3(NF1):c.415T>A (p.Ser139Thr) rs1555606096
NM_001042492.3(NF1):c.4174-3T>C rs786202602
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4227G>C (p.Met1409Ile) rs786201895
NM_001042492.3(NF1):c.4228T>G (p.Phe1410Val) rs2151461937
NM_001042492.3(NF1):c.4249G>T (p.Ala1417Ser) rs587781941
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr) rs1555618549
NM_001042492.3(NF1):c.4325T>G (p.Met1442Arg) rs1131691097
NM_001042492.3(NF1):c.4336C>G (p.Leu1446Val) rs1555618639
NM_001042492.3(NF1):c.433C>G (p.Leu145Val) rs786203460
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr) rs377295676
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4402G>A (p.Val1468Met) rs876660320
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4432T>G (p.Phe1478Val) rs1555618802
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.3(NF1):c.4472C>T (p.Ala1491Val) rs876658334
NM_001042492.3(NF1):c.4486C>T (p.Leu1496Phe) rs1555618823
NM_001042492.3(NF1):c.4546G>C (p.Glu1516Gln) rs786203390
NM_001042492.3(NF1):c.4562A>T (p.Tyr1521Phe) rs2067665932
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp) rs1555618861
NM_001042492.3(NF1):c.4579G>T (p.Asp1527Tyr) rs587781542
NM_001042492.3(NF1):c.4637T>C (p.Leu1546Pro) rs876660760
NM_001042492.3(NF1):c.4642C>T (p.Pro1548Ser) rs876658396
NM_001042492.3(NF1):c.4670C>G (p.Thr1557Arg) rs876660065
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_001042492.3(NF1):c.475A>C (p.Thr159Pro) rs371192107
NM_001042492.3(NF1):c.479+3T>G rs876658752
NM_001042492.3(NF1):c.4825G>A (p.Val1609Ile) rs876658973
NM_001042492.3(NF1):c.4826T>C (p.Val1609Ala) rs876660303
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.4852A>T (p.Ile1618Phe) rs1208118952
NM_001042492.3(NF1):c.4904A>G (p.Tyr1635Cys) rs786202866
NM_001042492.3(NF1):c.493A>G (p.Thr165Ala) rs786203186
NM_001042492.3(NF1):c.494C>T (p.Thr165Ile) rs876660009
NM_001042492.3(NF1):c.4975C>G (p.Leu1659Val) rs786203709
NM_001042492.3(NF1):c.5014G>A (p.Asp1672Asn) rs1483541195
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His) rs786203241
NM_001042492.3(NF1):c.5064G>T (p.Glu1688Asp) rs587781693
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp) rs1567611500
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln) rs1555533367
NM_001042492.3(NF1):c.5092A>T (p.Thr1698Ser) rs876659017
NM_001042492.3(NF1):c.5093C>G (p.Thr1698Ser) rs769469854
NM_001042492.3(NF1):c.5101A>C (p.Lys1701Gln) rs876659279
NM_001042492.3(NF1):c.5108G>A (p.Ser1703Asn) rs876660159
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys) rs876660487
NM_001042492.3(NF1):c.5160G>C (p.Glu1720Asp) rs773378630
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His) rs864622372
NM_001042492.3(NF1):c.5189C>G (p.Thr1730Ser) rs772831692
NM_001042492.3(NF1):c.5191T>A (p.Leu1731Met) rs876658602
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val) rs876658602
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu) rs876659956
NM_001042492.3(NF1):c.5221C>T (p.His1741Tyr) rs780529277
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro) rs2069375050
NM_001042492.3(NF1):c.529A>C (p.Ile177Leu)
NM_001042492.3(NF1):c.5329G>A (p.Val1777Ile) rs876658562
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile) rs1555533574
NM_001042492.3(NF1):c.5477A>G (p.His1826Arg) rs878853902
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.3(NF1):c.5503C>G (p.Gln1835Glu) rs786202177
NM_001042492.3(NF1):c.5504A>G (p.Gln1835Arg) rs876660025
NM_001042492.3(NF1):c.5510_5518del (p.Asp1837_Pro1840delinsAla) rs876660622
NM_001042492.3(NF1):c.5521C>A (p.Gln1841Lys) rs786203570
NM_001042492.3(NF1):c.5523A>T (p.Gln1841His) rs151046636
NM_001042492.3(NF1):c.5525A>G (p.His1842Arg) rs876660928
NM_001042492.3(NF1):c.5549T>C (p.Val1850Ala) rs1555533637
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr) rs786203416
NM_001042492.3(NF1):c.5577A>C (p.Leu1859Phe) rs876659180
NM_001042492.3(NF1):c.5642C>A (p.Thr1881Asn) rs876658349
NM_001042492.3(NF1):c.5650T>G (p.Phe1884Val) rs1060500378
NM_001042492.3(NF1):c.5709C>G (p.Asn1903Lys) rs1597834780
NM_001042492.3(NF1):c.5719T>C (p.Phe1907Leu) rs876660040
NM_001042492.3(NF1):c.572A>C (p.Lys191Thr) rs1555607113
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_001042492.3(NF1):c.587-5dup rs759349569
NM_001042492.3(NF1):c.5887_5889del (p.Asn1963del) rs1555534403
NM_001042492.3(NF1):c.5930A>G (p.Lys1977Arg) rs1555534416
NM_001042492.3(NF1):c.5959C>G (p.Gln1987Glu) rs876659070
NM_001042492.3(NF1):c.6013G>A (p.Asp2005Asn) rs876658702
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly) rs876658710
NM_001042492.3(NF1):c.6082G>C (p.Ala2028Pro) rs767869530
NM_001042492.3(NF1):c.61-13_61-12del rs2143624815
NM_001042492.3(NF1):c.61-7464_61-7440del rs1479491862
NM_001042492.3(NF1):c.610C>G (p.Leu204Val) rs1460076498
NM_001042492.3(NF1):c.6148-12G>C rs562331001
NM_001042492.3(NF1):c.6158G>A (p.Arg2053Lys) rs1060500289
NM_001042492.3(NF1):c.6162G>T (p.Met2054Ile) rs876660651
NM_001042492.3(NF1):c.6203C>T (p.Thr2068Ile) rs876659172
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val) rs764106639
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile) rs876658920
NM_001042492.3(NF1):c.6325T>A (p.Phe2109Ile) rs786203627
NM_001042492.3(NF1):c.6425G>A (p.Ser2142Asn) rs876658896
NM_001042492.3(NF1):c.6461C>T (p.Thr2154Ile) rs876658495
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala) rs372169109
NM_001042492.3(NF1):c.6616A>G (p.Thr2206Ala) rs781167415
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6642G>A (p.Glu2214=) rs876660207
NM_001042492.3(NF1):c.6649A>G (p.Met2217Val) rs876658255
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu) rs786203831
NM_001042492.3(NF1):c.665A>C (p.Asn222Thr) rs587781709
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu) rs876659371
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr) rs2069718829
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=) rs2069724967
NM_001042492.3(NF1):c.6758G>A (p.Gly2253Glu) rs876659295
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met) rs876659381
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042492.3(NF1):c.6819+5C>A rs876659499
NM_001042492.3(NF1):c.6820-6T>C rs1597845896
NM_001042492.3(NF1):c.6855C>T (p.Tyr2285=) rs772295894
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu) rs876659722
NM_001042492.3(NF1):c.6871A>T (p.Ile2291Leu) rs876659722
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile) rs786201902
NM_001042492.3(NF1):c.6900A>C (p.Lys2300Asn) rs786203861
NM_001042492.3(NF1):c.6922-3C>T rs876659438
NM_001042492.3(NF1):c.6928C>T (p.Pro2310Ser) rs2069789708
NM_001042492.3(NF1):c.694A>T (p.Thr232Ser) rs876660027
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr) rs786203881
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser) rs587781428
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del) rs786203558
NM_001042492.3(NF1):c.7065T>G (p.Ser2355Arg) rs1567620376
NM_001042492.3(NF1):c.7067C>T (p.Pro2356Leu) rs1555535402
NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly) rs786203596
NM_001042492.3(NF1):c.7108C>T (p.His2370Tyr) rs587781479
NM_001042492.3(NF1):c.7190-34C>A rs1757582806
NM_001042492.3(NF1):c.7190-5T>C rs748245325
NM_001042492.3(NF1):c.7190-5del rs769290414
NM_001042492.3(NF1):c.7210G>A (p.Ala2404Thr) rs2151572526
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser) rs774339063
NM_001042492.3(NF1):c.7271G>T (p.Arg2424Ile) rs1555536029
NM_001042492.3(NF1):c.7289A>C (p.Glu2430Ala) rs876659449
NM_001042492.3(NF1):c.7313A>G (p.Tyr2438Cys) rs876660597
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del) rs587781961
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr) rs587781869
NM_001042492.3(NF1):c.734G>T (p.Cys245Phe) rs587781869
NM_001042492.3(NF1):c.7364T>C (p.Leu2455Pro) rs1555536128
NM_001042492.3(NF1):c.7368A>T (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del) rs786203184
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile) rs876660126
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg) rs786202184
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala) rs876658722
NM_001042492.3(NF1):c.742A>G (p.Lys248Glu) rs876658252
NM_001042492.3(NF1):c.7435C>T (p.His2479Tyr) rs587782119
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val) rs786202540
NM_001042492.3(NF1):c.7444G>T (p.Asp2482Tyr) rs2151574641
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7462C>G (p.Leu2488Val) rs876660345
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile) rs1555604874
NM_001042492.3(NF1):c.7504G>C (p.Gly2502Arg) rs1555536357
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu) rs786202146
NM_001042492.3(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr) rs1555536373
NM_001042492.3(NF1):c.7610T>C (p.Leu2537Ser) rs876658670
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu) rs876659530
NM_001042492.3(NF1):c.7642A>G (p.Ile2548Val) rs1555536636
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu) rs786203792
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7708A>G (p.Arg2570Gly) rs786202086
NM_001042492.3(NF1):c.7737G>A (p.Met2579Ile) rs587781834
NM_001042492.3(NF1):c.7738+3G>A rs771445239
NM_001042492.3(NF1):c.7744C>A (p.Gln2582Lys) rs587781651
NM_001042492.3(NF1):c.7745A>G (p.Gln2582Arg) rs2151582173
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.776G>A (p.Ser259Asn) rs2066156591
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn) rs749460130
NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp) rs150657839
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu) rs766135206
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=) rs1555536703
NM_001042492.3(NF1):c.7847A>G (p.Gln2616Arg) rs876659308
NM_001042492.3(NF1):c.7869A>G (p.Leu2623=) rs876659536
NM_001042492.3(NF1):c.7877T>A (p.Leu2626Gln) rs2151583174
NM_001042492.3(NF1):c.7922A>T (p.Glu2641Val) rs876658205
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr) rs587781791
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser) rs587781791
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe) rs786202579
NM_001042492.3(NF1):c.8000C>G (p.Thr2667Ser) rs786203669
NM_001042492.3(NF1):c.8000C>T (p.Thr2667Ile) rs786203669
NM_001042492.3(NF1):c.8024C>T (p.Pro2675Leu) rs1260740048
NM_001042492.3(NF1):c.8060G>T (p.Ser2687Ile) rs1555536916
NM_001042492.3(NF1):c.8083C>T (p.Pro2695Ser) rs772707560
NM_001042492.3(NF1):c.808C>G (p.Gln270Glu) rs1555608970
NM_001042492.3(NF1):c.8161-3C>T rs786203684
NM_001042492.3(NF1):c.8179T>C (p.Tyr2727His) rs876660178
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.8218G>A (p.Asp2740Asn) rs1555537228
NM_001042492.3(NF1):c.823A>C (p.Ile275Leu) rs786202464
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn) rs2151587925
NM_001042492.3(NF1):c.8440C>T (p.Arg2814Cys) rs876658139
NM_001042492.3(NF1):c.8467A>G (p.Lys2823Glu) rs2151601529
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr) rs199878086
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.8514C>G (p.Ile2838Met) rs1567634589
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001042492.3(NF1):c.889-458T>C rs2143869041
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln) rs786202384
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280

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.