ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 636
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667 0.00012
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 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.7870-8C>A rs372441422 0.00006
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.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr) rs746994734 0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) rs864622373 0.00004
NM_001042492.3(NF1):c.6643-13T>C rs764601493 0.00004
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His) rs864622065 0.00004
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu) rs760550772 0.00004
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.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.2821A>G (p.Ile941Val) rs876659888 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.4835+5G>C rs786201306 0.00003
NM_001042492.3(NF1):c.67A>G (p.Ile23Val) rs542824372 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 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.145T>A (p.Tyr49Asn) rs764367878 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.2282C>T (p.Ala761Val) rs746850653 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 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.4285A>G (p.Lys1429Glu) rs758915600 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 0.00002
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser) rs767500770 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.529A>G (p.Ile177Val) rs766213678 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val) rs370858405 0.00002
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile) rs747881072 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln) rs375468032 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.1138C>T (p.Leu380Phe) rs1426127948 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile) rs1389152072 0.00001
NM_001042492.3(NF1):c.1392G>A (p.Pro464=) rs201604273 0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871 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.1642-12T>A rs2066926774 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.1870T>C (p.Phe624Leu) rs765060733 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 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.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.1991A>G (p.Asn664Ser) rs756145065 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.2189A>C (p.Asn730Thr) rs778033578 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826 0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899 0.00001
NM_001042492.3(NF1):c.2517C>T (p.Asn839=) rs876659543 0.00001
NM_001042492.3(NF1):c.2564G>C (p.Arg855Thr) rs786203716 0.00001
NM_001042492.3(NF1):c.2576G>C (p.Gly859Ala) rs876659829 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.2659G>A (p.Ala887Thr) rs1251621684 0.00001
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg) rs369912079 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn) rs1555614350 0.00001
NM_001042492.3(NF1):c.288G>T (p.Gly96=) rs1430988476 0.00001
NM_001042492.3(NF1):c.2902A>G (p.Met968Val) rs587781499 0.00001
NM_001042492.3(NF1):c.2971A>G (p.Met991Val) rs1268543864 0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252 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.3079G>A (p.Asp1027Asn) rs774066804 0.00001
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val) rs771694969 0.00001
NM_001042492.3(NF1):c.3166G>A (p.Ala1056Thr) rs776907522 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.3394C>T (p.Arg1132Cys) rs587781725 0.00001
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile) rs375845704 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.354C>T (p.Cys118=) rs768777585 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.3811A>G (p.Met1271Val) rs746583007 0.00001
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591 0.00001
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser) rs761512189 0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4010G>T (p.Arg1337Leu) rs1060500379 0.00001
NM_001042492.3(NF1):c.4046C>A (p.Ala1349Asp) rs1229215269 0.00001
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln) rs1060500244 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.4120C>T (p.His1374Tyr) rs764123241 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser) rs199474754 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_001042492.3(NF1):c.4378C>G (p.His1460Asp) rs377295676 0.00001
NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp) rs876658127 0.00001
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln) rs370852681 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met) rs876658776 0.00001
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser) rs587781445 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.4736A>G (p.His1579Arg) rs1275751975 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.4793C>A (p.Thr1598Asn) rs753453385 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.4835+3A>G rs1417732851 0.00001
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp) rs587782213 0.00001
NM_001042492.3(NF1):c.4870A>G (p.Ile1624Val) rs1555533280 0.00001
NM_001042492.3(NF1):c.4945G>A (p.Gly1649Arg) rs770124316 0.00001
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro) rs745489489 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala) rs1021835871 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 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.5407A>G (p.Ile1803Val) rs559910904 0.00001
NM_001042492.3(NF1):c.5436C>T (p.Phe1812=) rs864622640 0.00001
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu) rs786202459 0.00001
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val) rs746689492 0.00001
NM_001042492.3(NF1):c.5610-12G>A rs749499960 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.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe) rs1300330804 0.00001
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr) rs2069704009 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.6779C>T (p.Ser2260Phe) rs876658775 0.00001
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His) rs562367786 0.00001
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe) rs1555608742 0.00001
NM_001042492.3(NF1):c.6819+4C>T rs755135948 0.00001
NM_001042492.3(NF1):c.6922-13T>C rs199901687 0.00001
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys) rs56013763 0.00001
NM_001042492.3(NF1):c.7080T>A (p.Phe2360Leu) rs2069866250 0.00001
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 0.00001
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln) rs1555535407 0.00001
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg) rs775476318 0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001042492.3(NF1):c.7241A>G (p.His2414Arg) rs876659855 0.00001
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile) rs764022114 0.00001
NM_001042492.3(NF1):c.7280A>G (p.Asp2427Gly) rs1359563939 0.00001
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln) rs533110479 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 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.7525C>T (p.Pro2509Ser) rs886052803 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.7645T>C (p.Ser2549Pro) rs767458044 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.7757C>T (p.Ser2586Leu) rs769876049 0.00001
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His) rs774781617 0.00001
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val) rs776602307 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.7889C>G (p.Thr2630Ser) rs1283946778 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly) rs1487025591 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 0.00001
NM_001042492.3(NF1):c.8298G>A (p.Leu2766=) rs768947696 0.00001
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln) rs1383658117 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly) rs764858484 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln) rs76015786 0.00001
NM_001042492.3(NF1):c.*1delinsTCG
NM_001042492.3(NF1):c.1032A>T (p.Leu344=) rs199832006
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala) rs878853861
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe) rs1567835662
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
NM_001042492.3(NF1):c.1085A>G (p.Lys362Arg) rs1555610976
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser) rs878853862
NM_001042492.3(NF1):c.1117G>A (p.Val373Met)
NM_001042492.3(NF1):c.1185+5G>T
NM_001042492.3(NF1):c.1225G>A (p.Val409Met) rs2143886228
NM_001042492.3(NF1):c.1226T>A (p.Val409Glu) rs876660378
NM_001042492.3(NF1):c.1237T>A (p.Ser413Thr) rs1555611093
NM_001042492.3(NF1):c.1254C>T (p.Ile418=)
NM_001042492.3(NF1):c.1260+4A>G rs2066529521
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro) rs2143914353
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_001042492.3(NF1):c.1339C>T (p.Leu447Phe)
NM_001042492.3(NF1):c.1348G>A (p.Ala450Thr) rs2143914842
NM_001042492.3(NF1):c.1351G>A (p.Val451Met)
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly) rs747466938
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001042492.3(NF1):c.1393-2dup rs1394021280
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_001042492.3(NF1):c.1432A>G (p.Lys478Glu)
NM_001042492.3(NF1):c.1448A>T (p.Asp483Val)
NM_001042492.3(NF1):c.146A>G (p.Tyr49Cys) rs2143626634
NM_001042492.3(NF1):c.1477C>T (p.Leu493Phe) rs1135402812
NM_001042492.3(NF1):c.1491_1499del (p.Lys498_Ile500del) rs2143960093
NM_001042492.3(NF1):c.1536A>C (p.Arg512Ser)
NM_001042492.3(NF1):c.1560C>T (p.Gly520=) rs112168406
NM_001042492.3(NF1):c.1582G>A (p.Gly528Arg) rs2143986428
NM_001042492.3(NF1):c.1605G>A (p.Gln535=) rs1567843919
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1642-12dup rs2144003305
NM_001042492.3(NF1):c.1642-3C>T rs1597706610
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser) rs2066927450
NM_001042492.3(NF1):c.164T>C (p.Ile55Thr) rs2065657050
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly) rs2144004099
NM_001042492.3(NF1):c.1673T>C (p.Ile558Thr) rs2144004218
NM_001042492.3(NF1):c.1719T>G (p.Ile573Met) rs2144004922
NM_001042492.3(NF1):c.1721+6T>G rs2144005065
NM_001042492.3(NF1):c.1722-24_1722-12del rs2144014907
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del) rs2143627187
NM_001042492.3(NF1):c.1780A>G (p.Thr594Ala) rs1555613419
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val) rs1597708772
NM_001042492.3(NF1):c.1845+4del
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_001042492.3(NF1):c.1873C>T (p.Leu625Phe)
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr) rs1567846698
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1919C>G (p.Thr640Ser) rs1555613573
NM_001042492.3(NF1):c.1931C>G (p.Ser644Cys) rs1174202288
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr) rs776251084
NM_001042492.3(NF1):c.1940A>G (p.His647Arg) rs1170252879
NM_001042492.3(NF1):c.1998T>C (p.Ser666=) rs1567846823
NM_001042492.3(NF1):c.2002-4_2002-3del rs786203664
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2023G>C (p.Gly675Arg) rs779546178
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile) rs1294581001
NM_001042492.3(NF1):c.2032_2034delinsGCA (p.Pro678Ala) rs1597712318
NM_001042492.3(NF1):c.204+5G>C rs1131691499
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu) rs2067016517
NM_001042492.3(NF1):c.2077A>C (p.Met693Leu) rs1555613794
NM_001042492.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_001042492.3(NF1):c.2123C>T (p.Ser708Phe) rs1567847493
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.3(NF1):c.2177T>C (p.Val726Ala) rs2151425984
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.2250A>G (p.Thr750=) rs876659061
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu) rs199474777
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile) rs917302286
NM_001042492.3(NF1):c.2344G>A (p.Ala782Thr) rs1352143970
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe) rs1555614005
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val) rs1181350360
NM_001042492.3(NF1):c.239A>T (p.Tyr80Phe) rs4795581
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.2410-9T>G
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_001042492.3(NF1):c.2413G>A (p.Ala805Thr) rs2067064287
NM_001042492.3(NF1):c.2416G>A (p.Glu806Lys)
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2462G>T (p.Ser821Ile) rs1303972238
NM_001042492.3(NF1):c.2468G>T (p.Gly823Val) rs1060500267
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe) rs1567848794
NM_001042492.3(NF1):c.2518A>G (p.Met840Val) rs779931789
NM_001042492.3(NF1):c.2523_2524insAAG (p.Thr841_Gly842insLys) rs1555614222
NM_001042492.3(NF1):c.2539C>T (p.Leu847Phe) rs753552408
NM_001042492.3(NF1):c.2548G>A (p.Val850Met) rs2151429112
NM_001042492.3(NF1):c.2567G>C (p.Ser856Thr) rs2151429147
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys) rs1344682851
NM_001042492.3(NF1):c.2657A>G (p.Asn886Ser)
NM_001042492.3(NF1):c.2665A>G (p.Thr889Ala) rs1314766383
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.270G>C (p.Leu90=) rs2065717955
NM_001042492.3(NF1):c.2722A>G (p.Lys908Glu)
NM_001042492.3(NF1):c.2767C>A (p.Leu923Ile) rs1567849138
NM_001042492.3(NF1):c.2810T>G (p.Leu937Trp) rs1567849184
NM_001042492.3(NF1):c.281T>C (p.Leu94Pro) rs1597629884
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg) rs1597629884
NM_001042492.3(NF1):c.2869A>G (p.Asn957Asp)
NM_001042492.3(NF1):c.289-1G>A
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2910C>G (p.Asn970Lys)
NM_001042492.3(NF1):c.291A>G (p.Gln97=) rs1555606044
NM_001042492.3(NF1):c.2980A>T (p.Asn994Tyr) rs2067085170
NM_001042492.3(NF1):c.2998C>G (p.Arg1000Gly)
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val) rs1597716866
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser) rs1597716965
NM_001042492.3(NF1):c.3086T>G (p.Leu1029Arg) rs2067092609
NM_001042492.3(NF1):c.3089C>T (p.Ser1030Leu)
NM_001042492.3(NF1):c.3137C>G (p.Thr1046Arg) rs2151432404
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile) rs1555614639
NM_001042492.3(NF1):c.3151G>A (p.Gly1051Arg)
NM_001042492.3(NF1):c.3163C>G (p.Gln1055Glu) rs866069972
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr) rs1367746167
NM_001042492.3(NF1):c.3175G>A (p.Asp1059Asn) rs765164994
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg) rs776079267
NM_001042492.3(NF1):c.3191T>G (p.Leu1064Arg)
NM_001042492.3(NF1):c.3198-5T>G rs587782639
NM_001042492.3(NF1):c.320C>T (p.Thr107Met) rs1567817857
NM_001042492.3(NF1):c.3216C>G (p.Ser1072Arg) rs1567850647
NM_001042492.3(NF1):c.3264A>C (p.Glu1088Asp)
NM_001042492.3(NF1):c.3279G>A (p.Val1093=) rs769134583
NM_001042492.3(NF1):c.3302A>C (p.Gln1101Pro)
NM_001042492.3(NF1):c.3349T>G (p.Cys1117Gly)
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp) rs1060500325
NM_001042492.3(NF1):c.3407G>A (p.Arg1136Gln) rs868407539
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg) rs1555614965
NM_001042492.3(NF1):c.3455T>C (p.Leu1152Ser)
NM_001042492.3(NF1):c.3457C>T (p.Leu1153Phe) rs2151434781
NM_001042492.3(NF1):c.3463G>A (p.Ala1155Thr)
NM_001042492.3(NF1):c.3470T>C (p.Val1157Ala) rs2151434814
NM_001042492.3(NF1):c.3495A>G (p.Ile1165Met) rs876660814
NM_001042492.3(NF1):c.3497-12T>A rs753605564
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly) rs1555615017
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val) rs786203658
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.356A>G (p.His119Arg) rs150080742
NM_001042492.3(NF1):c.3571A>T (p.Thr1191Ser) rs1555615033
NM_001042492.3(NF1):c.3582C>G (p.Asp1194Glu) rs1555615036
NM_001042492.3(NF1):c.3595A>G (p.Thr1199Ala) rs1453504440
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln) rs1057521848
NM_001042492.3(NF1):c.3623T>C (p.Leu1208Ser) rs1060500374
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.3653A>C (p.Gln1218Pro) rs876659541
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_001042492.3(NF1):c.3673A>G (p.Met1225Val) rs770837892
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
NM_001042492.3(NF1):c.3713A>C (p.Glu1238Ala) rs2151437710
NM_001042492.3(NF1):c.3734C>G (p.Thr1245Ser) rs1363534157
NM_001042492.3(NF1):c.374G>C (p.Arg125Pro)
NM_001042492.3(NF1):c.3773G>T (p.Trp1258Leu) rs1555615458
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3808T>C (p.Ser1270Pro) rs1597722567
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.3(NF1):c.3814C>A (p.Gln1272Lys) rs2067188361
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_001042492.3(NF1):c.3855G>C (p.Met1285Ile) rs2067189497
NM_001042492.3(NF1):c.3866T>G (p.Phe1289Cys) rs2151438065
NM_001042492.3(NF1):c.3867C>G (p.Phe1289Leu) rs138186428
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
NM_001042492.3(NF1):c.387G>C (p.Gln129His) rs1390215440
NM_001042492.3(NF1):c.392C>T (p.Ala131Val) rs1567817930
NM_001042492.3(NF1):c.3973A>G (p.Arg1325Gly) rs2151438704
NM_001042492.3(NF1):c.3975G>T (p.Arg1325Ser) rs1597734999
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_001042492.3(NF1):c.4018C>T (p.Leu1340Phe) rs876658268
NM_001042492.3(NF1):c.4028C>G (p.Thr1343Ser) rs2151451433
NM_001042492.3(NF1):c.4045G>A (p.Ala1349Thr) rs1555617332
NM_001042492.3(NF1):c.4048A>G (p.Ile1350Val) rs1567858357
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe) rs1555617346
NM_001042492.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_001042492.3(NF1):c.4110+3A>C rs774669878
NM_001042492.3(NF1):c.4110+4T>A rs587781700
NM_001042492.3(NF1):c.415T>C (p.Ser139Pro) rs1555606096
NM_001042492.3(NF1):c.4200C>T (p.Asn1400=) rs2151461842
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile) rs786201895
NM_001042492.3(NF1):c.4241T>G (p.Ile1414Ser) rs2151461968
NM_001042492.3(NF1):c.4247C>A (p.Pro1416His) rs1555618521
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His) rs17884349
NM_001042492.3(NF1):c.426_437del (p.Leu142_Ser146delinsPhe) rs2143673002
NM_001042492.3(NF1):c.4271C>A (p.Ala1424Glu) rs2067623060
NM_001042492.3(NF1):c.427T>A (p.Phe143Ile)
NM_001042492.3(NF1):c.4290_4291delinsCT (p.Lys1430_Pro1431delinsAsnSer) rs1567862024
NM_001042492.3(NF1):c.4298C>T (p.Pro1433Leu)
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4316T>C (p.Leu1439Ser) rs1567862071
NM_001042492.3(NF1):c.4325T>G (p.Met1442Arg) rs1131691097
NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser)
NM_001042492.3(NF1):c.4355A>G (p.His1452Arg) rs1567862291
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4360C>T (p.Leu1454Phe) rs1408832954
NM_001042492.3(NF1):c.4373A>T (p.Glu1458Val)
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr) rs377295676
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile) rs1555618677
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.3(NF1):c.446A>G (p.Asn149Ser) rs2143673370
NM_001042492.3(NF1):c.4481A>T (p.His1494Leu) rs769417700
NM_001042492.3(NF1):c.4490C>A (p.Ser1497Tyr)
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.4520T>C (p.Leu1507Ser) rs1135402863
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys) rs878853897
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys) rs1555618860
NM_001042492.3(NF1):c.4578-11_4578-10del
NM_001042492.3(NF1):c.458T>A (p.Val153Asp) rs2143673698
NM_001042492.3(NF1):c.460T>C (p.Phe154Leu)
NM_001042492.3(NF1):c.4618G>A (p.Ala1540Thr) rs2151466274
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu) rs2151466279
NM_001042492.3(NF1):c.4622C>T (p.Thr1541Ile) rs2151466288
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val) rs1555619011
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu) rs1555619015
NM_001042492.3(NF1):c.463A>T (p.Ser155Cys) rs1272106481
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr) rs1468638747
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile) rs1567863650
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val) rs1567865010
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn) rs1597753246
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu) rs2151470179
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly) rs1567865042
NM_001042492.3(NF1):c.478A>G (p.Arg160Gly) rs1555606128
NM_001042492.3(NF1):c.479+6T>C rs1567818036
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.482T>C (p.Leu161Ser)
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.4835G>C (p.Arg1612Thr) rs1555619423
NM_001042492.3(NF1):c.4847G>A (p.Gly1616Asp) rs1597829516
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro) rs2151537585
NM_001042492.3(NF1):c.4892T>C (p.Leu1631Ser) rs1555533292
NM_001042492.3(NF1):c.4924G>A (p.Val1642Ile) rs2151537778
NM_001042492.3(NF1):c.4933C>G (p.Leu1645Val) rs2069328058
NM_001042492.3(NF1):c.4940A>C (p.His1647Pro) rs1555533307
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser) rs1201910133
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys) rs1555533347
NM_001042492.3(NF1):c.5037C>G (p.Ile1679Met) rs1555533349
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys) rs758361270
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5068A>C (p.Thr1690Pro) rs2069332520
NM_001042492.3(NF1):c.5075A>G (p.Tyr1692Cys)
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg) rs2151538392
NM_001042492.3(NF1):c.5096G>T (p.Gly1699Val) rs2069333669
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly) rs1555533374
NM_001042492.3(NF1):c.5132G>C (p.Cys1711Ser) rs1567611549
NM_001042492.3(NF1):c.5176C>T (p.Leu1726=)
NM_001042492.3(NF1):c.5180C>G (p.Pro1727Arg) rs2069336255
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
NM_001042492.3(NF1):c.5193_5194insAATGCCACCTTG (p.Leu1731_Ala1732insAsnAlaThrLeu) rs2151538831
NM_001042492.3(NF1):c.520G>A (p.Val174Ile) rs1555607084
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu) rs876659956
NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu) rs2069338050
NM_001042492.3(NF1):c.5253C>G (p.Thr1751=)
NM_001042492.3(NF1):c.5269-14C>G rs753463683
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly) rs1567820732
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr) rs529905904
NM_001042492.3(NF1):c.5303A>G (p.Glu1768Gly) rs2151540883
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln) rs1555533559
NM_001042492.3(NF1):c.5336T>G (p.Leu1779Arg) rs2151541015
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile) rs761676110
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile) rs1555533574
NM_001042492.3(NF1):c.5419G>T (p.Gly1807Cys)
NM_001042492.3(NF1):c.5442C>G (p.His1814Gln) rs991848606
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp) rs1555533609
NM_001042492.3(NF1):c.5515A>G (p.Ile1839Val) rs2151541625
NM_001042492.3(NF1):c.5523A>T (p.Gln1841His) rs151046636
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe) rs1567612641
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397
NM_001042492.3(NF1):c.5552C>G (p.Pro1851Arg) rs1555533638
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln) rs878853903
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp) rs1597832460
NM_001042492.3(NF1):c.5591G>C (p.Ser1864Thr) rs1567612716
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe) rs876658130
NM_001042492.3(NF1):c.5681A>G (p.Glu1894Gly)
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val) rs1465309384
NM_001042492.3(NF1):c.570A>T (p.Leu190Phe) rs2143708067
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5743C>G (p.Leu1915Val)
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys) rs786203824
NM_001042492.3(NF1):c.5785G>C (p.Glu1929Gln)
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5812+6T>G rs1555533893
NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser) rs1304057833
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.586+5G>C rs1060500284
NM_001042492.3(NF1):c.586G>C (p.Glu196Gln) rs876659079
NM_001042492.3(NF1):c.587-12T>C
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.5953G>A (p.Glu1985Lys) rs1567615890
NM_001042492.3(NF1):c.5961G>C (p.Gln1987His) rs757536610
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys) rs753703741
NM_001042492.3(NF1):c.6002G>A (p.Gly2001Glu) rs878853905
NM_001042492.3(NF1):c.6016C>G (p.Leu2006Val) rs2151553176
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly) rs876658710
NM_001042492.3(NF1):c.6043A>G (p.Ile2015Val) rs2151553260
NM_001042492.3(NF1):c.6049A>C (p.Thr2017Pro)
NM_001042492.3(NF1):c.6052A>G (p.Ser2018Gly) rs2151553286
NM_001042492.3(NF1):c.6058A>G (p.Thr2020Ala) rs1597842258
NM_001042492.3(NF1):c.6061G>C (p.Gly2021Arg) rs2151553314
NM_001042492.3(NF1):c.6148-3C>G rs1597842697
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_001042492.3(NF1):c.6283G>A (p.Asp2095Asn) rs1254820959
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr) rs1060500382
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro) rs1555534726
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro) rs1597843129
NM_001042492.3(NF1):c.6425G>A (p.Ser2142Asn) rs876658896
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6449_6460del (p.Arg2150_Leu2153del) rs1555534860
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr) rs2069705362
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys) rs878853908
NM_001042492.3(NF1):c.655-9T>C rs2143777099
NM_001042492.3(NF1):c.65C>T (p.Pro22Leu) rs2065654347
NM_001042492.3(NF1):c.6621A>C (p.Glu2207Asp) rs111405163
NM_001042492.3(NF1):c.6625T>G (p.Leu2209Val) rs2151556602
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.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6728C>G (p.Ser2243Cys) rs2151558088
NM_001042492.3(NF1):c.6763A>T (p.Ile2255Phe)
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp) rs1392981001
NM_001042492.3(NF1):c.6790A>G (p.Ile2264Val) rs761213794
NM_001042492.3(NF1):c.6820-3A>G
NM_001042492.3(NF1):c.6854ACA[1] (p.Asn2286del)
NM_001042492.3(NF1):c.6856A>C (p.Asn2286His)
NM_001042492.3(NF1):c.6865G>C (p.Val2289Leu) rs943381724
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly) rs1060500285
NM_001042492.3(NF1):c.6898A>G (p.Lys2300Glu)
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6921G>T (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6922-13T>A rs199901687
NM_001042492.3(NF1):c.6935A>C (p.His2312Pro) rs2151561492
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile) rs769719064
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.6979G>A (p.Glu2327Lys) rs2151561691
NM_001042492.3(NF1):c.6986A>G (p.Asn2329Ser) rs1597848079
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe) rs1597848149
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg) rs2151561874
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.7037A>T (p.Asp2346Val) rs2151561935
NM_001042492.3(NF1):c.7040G>C (p.Ser2347Thr) rs1567619102
NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu) rs1381254564
NM_001042492.3(NF1):c.704A>G (p.Tyr235Cys)
NM_001042492.3(NF1):c.7062G>A (p.Lys2354=) rs184142864
NM_001042492.3(NF1):c.7074A>T (p.Glu2358Asp)
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val) rs2069866148
NM_001042492.3(NF1):c.707A>G (p.Gln236Arg) rs1321998864
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.7120A>T (p.Met2374Leu)
NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp) rs1597851405
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
NM_001042492.3(NF1):c.7175G>A (p.Gly2392Glu) rs2151565294
NM_001042492.3(NF1):c.7190-10_7190-3delinsCTTTTGG rs2151572443
NM_001042492.3(NF1):c.7193A>G (p.Tyr2398Cys) rs1567623401
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser) rs1597858372
NM_001042492.3(NF1):c.730+3A>T rs762029774
NM_001042492.3(NF1):c.7321+3A>T rs1597858650
NM_001042492.3(NF1):c.7336T>G (p.Ser2446Ala) rs2151574285
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del) rs587781961
NM_001042492.3(NF1):c.734G>T (p.Cys245Phe) rs587781869
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His) rs1555536122
NM_001042492.3(NF1):c.7358G>T (p.Cys2453Phe)
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys) rs1555536130
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His) rs864622745
NM_001042492.3(NF1):c.7457+5G>A rs1555536171
NM_001042492.3(NF1):c.7458-3C>G rs1158267419
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp) rs375176282
NM_001042492.3(NF1):c.7615+6T>C
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
NM_001042492.3(NF1):c.7643T>A (p.Ile2548Lys) rs864622266
NM_001042492.3(NF1):c.7660C>T (p.Pro2554Ser)
NM_001042492.3(NF1):c.7690A>C (p.Thr2564Pro) rs2151581238
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7712G>A (p.Arg2571Lys) rs1597865842
NM_001042492.3(NF1):c.7824A>T (p.Glu2608Asp) rs1567626984
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu) rs786203848
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys) rs754343223
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile) rs1471144465
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val) rs1555536721
NM_001042492.3(NF1):c.7869+5G>C rs1555536725
NM_001042492.3(NF1):c.7888A>G (p.Thr2630Ala) rs1567627155
NM_001042492.3(NF1):c.7913T>G (p.Ile2638Ser) rs2151583287
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg) rs1597866986
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu) rs1597867008
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.7966G>A (p.Val2656Ile)
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.797T>G (p.Val266Gly) rs2143785789
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met) rs955074155
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln) rs1170836879
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.821T>A (p.Leu274His) rs2066157974
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg) rs2066157974
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr) rs1555537252
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val) rs2070377037
NM_001042492.3(NF1):c.8376A>C (p.Pro2792=) rs1028961967
NM_001042492.3(NF1):c.8412C>T (p.Thr2804=) rs1555538531
NM_001042492.3(NF1):c.8452G>A (p.Ala2818Thr) rs771006452
NM_001042492.3(NF1):c.8469G>A (p.Lys2823=) rs1203883572
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr) rs1057523477
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT rs2143871690
NM_001042492.3(NF1):c.889-21C>A rs753797445
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro) rs1555604881
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
NM_001042492.3(NF1):c.895T>C (p.Phe299Leu) rs2143872037
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro) rs2066505649
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn) rs2066505718
NM_001042492.3(NF1):c.902A>T (p.Asp301Val)
NM_001042492.3(NF1):c.908T>C (p.Leu303Pro)
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro) rs2066507272
NM_001042492.3(NF1):c.958_959delinsTT (p.Ala320Phe)
NM_001042492.3(NF1):c.983G>A (p.Cys328Tyr) rs2143873368
NM_001042492.3(NF1):c.988G>C (p.Ala330Pro) rs199474767

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