ClinVar Miner

List of variants in gene NF1 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 512
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.64686
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.57005
NM_001042492.3(NF1):c.288+41G>A rs2952976 0.56461
NM_001042492.3(NF1):c.1641+39T>C rs2905880 0.52895
NM_001042492.3(NF1):c.1393-32T>C rs2905876 0.52881
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_001042492.3(NF1):c.7458-29G>A rs964288 0.49344
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_001042492.3(NF1):c.3496+33C>A rs2066736 0.40732
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001042492.3(NF1):c.4431-46G>C rs17881285 0.05624
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02390
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02109
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01813
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01502
NM_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001042492.3(NF1):c.1846-39C>T rs17885830 0.01017
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.00994
NM_001042492.3(NF1):c.4578-39A>G rs8072417 0.00956
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00790
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00628
NM_001042492.3(NF1):c.7738+46G>A rs199641099 0.00459
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00396
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00283
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00237
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00234
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00197
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.888+647C>G rs185500742 0.00191
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001042492.3(NF1):c.8161-45A>C rs17879551 0.00176
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00125
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00123
NM_001042492.3(NF1):c.1393-579C>T rs527622092 0.00105
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00084
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.6921+40A>G rs188244160 0.00065
NM_001042492.3(NF1):c.3198-3dup rs1555614816 0.00063
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00057
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.7615+24del rs754290122 0.00050
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val) rs200022550 0.00048
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001042492.3(NF1):c.6922-16A>G rs202158964 0.00030
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00029
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00027
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_001042492.3(NF1):c.1062+113A>G rs868553650 0.00021
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001042492.3(NF1):c.888+660A>G rs537175159 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00018
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00017
NM_001042492.3(NF1):c.3871-15C>T rs200104394 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.5813-24T>C rs372544587 0.00016
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00013
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667 0.00013
NM_001042492.3(NF1):c.3974+38T>G rs9894862 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.1392+750A>G rs991539772 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.2002-9G>T rs376197466 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00011
NM_001042492.3(NF1):c.2838C>T (p.Asp946=) rs147188807 0.00011
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=) rs201584313 0.00011
NM_001042492.3(NF1):c.1721+66T>A rs535449551 0.00010
NM_001042492.3(NF1):c.2410-27T>C rs375016173 0.00009
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00008
NM_001042492.3(NF1):c.6148-18A>T rs544123874 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.1062+110T>C rs371815284 0.00007
NM_001042492.3(NF1):c.1392+5G>T rs199999754 0.00007
NM_001042492.3(NF1):c.1392+6A>T rs200798969 0.00007
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00007
NM_001042492.3(NF1):c.1393-31G>A rs564424477 0.00006
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=) rs148662566 0.00006
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=) rs773467465 0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001042492.3(NF1):c.8114-60T>C rs76541334 0.00006
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=) rs201648604 0.00005
NM_001042492.3(NF1):c.5812+259A>G rs553337592 0.00005
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=) rs147522129 0.00005
NM_001042492.3(NF1):c.7245A>G (p.Thr2415=) rs539553128 0.00005
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00005
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00005
NM_001042492.3(NF1):c.181A>G (p.Ile61Val) rs754295034 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.4767G>A (p.Thr1589=) rs376659579 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=) rs375776474 0.00004
NM_001042492.3(NF1):c.6628T>C (p.Leu2210=) rs138265293 0.00004
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His) rs864622065 0.00004
NM_001042492.3(NF1):c.889-17A>G rs371265998 0.00004
NM_001042492.3(NF1):c.898C>T (p.Leu300=) rs786201926 0.00004
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.1884C>T (p.Tyr628=) rs555635097 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.2851-15T>G rs371120423 0.00003
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547 0.00003
NM_001042492.3(NF1):c.3114-4A>G rs201550230 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00003
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00003
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=) rs864622298 0.00003
NM_001042492.3(NF1):c.4835+5G>C rs786201306 0.00003
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=) rs779114598 0.00003
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00003
NM_001042492.3(NF1):c.6642+4T>C rs587781687 0.00003
NM_001042492.3(NF1):c.7189+7A>G rs767151173 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.8479G>T (p.Ala2827Ser) rs199878086 0.00003
NM_001042492.3(NF1):c.861C>T (p.Asp287=) rs749949219 0.00003
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505 0.00002
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896 0.00002
NM_001042492.3(NF1):c.3063A>C (p.Val1021=) rs768611775 0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 0.00002
NM_001042492.3(NF1):c.4665A>C (p.Ala1555=) rs786201457 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.5812+333T>C rs1027694888 0.00002
NM_001042492.3(NF1):c.6060A>G (p.Thr2020=) rs761889172 0.00002
NM_001042492.3(NF1):c.628T>C (p.Leu210=) rs757812365 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.6922-8T>C rs191255643 0.00002
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 0.00002
NM_001042492.3(NF1):c.7457+8G>T rs376147282 0.00002
NM_001042492.3(NF1):c.8113+28G>C rs367730383 0.00002
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=) rs139527415 0.00002
NM_001042492.3(NF1):c.8160+9A>C rs997202389 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.1062+7T>C rs979521240 0.00001
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103 0.00001
NM_001042492.3(NF1):c.1176A>G (p.Gln392=) rs566220983 0.00001
NM_001042492.3(NF1):c.1185+7G>A rs1322791959 0.00001
NM_001042492.3(NF1):c.1369C>T (p.His457Tyr) rs757560526 0.00001
NM_001042492.3(NF1):c.1393-596G>T rs1167599355 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1479C>G (p.Leu493=) rs139653388 0.00001
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084 0.00001
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379 0.00001
NM_001042492.3(NF1):c.1974C>A (p.Leu658=) rs751318331 0.00001
NM_001042492.3(NF1):c.205-20C>T rs1203386469 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001042492.3(NF1):c.2326-9T>A rs181838967 0.00001
NM_001042492.3(NF1):c.2355A>G (p.Glu785=) rs876658622 0.00001
NM_001042492.3(NF1):c.235T>C (p.Leu79=) rs764855221 0.00001
NM_001042492.3(NF1):c.2410-18C>T rs533210843 0.00001
NM_001042492.3(NF1):c.2454C>G (p.Ser818=) rs763634947 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001042492.3(NF1):c.2547A>C (p.Gly849=) rs748303121 0.00001
NM_001042492.3(NF1):c.2550G>T (p.Val850=) rs772148227 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.264T>C (p.Asp88=) rs1359209770 0.00001
NM_001042492.3(NF1):c.2658C>T (p.Asn886=) rs781549970 0.00001
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg) rs369912079 0.00001
NM_001042492.3(NF1):c.2991-12A>G rs760838737 0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252 0.00001
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn) rs774066804 0.00001
NM_001042492.3(NF1):c.3111T>C (p.Phe1037=) rs200240170 0.00001
NM_001042492.3(NF1):c.3198-316A>G rs1383978456 0.00001
NM_001042492.3(NF1):c.3285G>A (p.Leu1095=) rs774759676 0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3709-8G>C rs767650263 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 0.00001
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001042492.3(NF1):c.3975-4G>A rs760207624 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.4085G>A (p.Arg1362Gln) rs540108477 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 0.00001
NM_001042492.3(NF1):c.4110+937C>T rs1287975998 0.00001
NM_001042492.3(NF1):c.4110+955C>G rs2067469105 0.00001
NM_001042492.3(NF1):c.417T>C (p.Ser139=) rs762434870 0.00001
NM_001042492.3(NF1):c.4230C>T (p.Phe1410=) rs750213850 0.00001
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser) rs1265291141 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.480-1G>A rs2065902916 0.00001
NM_001042492.3(NF1):c.4887G>A (p.Leu1629=) rs368638966 0.00001
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=) rs759291615 0.00001
NM_001042492.3(NF1):c.5007T>C (p.Phe1669=) rs761807609 0.00001
NM_001042492.3(NF1):c.5145G>A (p.Leu1715=) rs762436173 0.00001
NM_001042492.3(NF1):c.5269-35C>G rs367818974 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.529A>G (p.Ile177Val) rs766213678 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.5508C>T (p.Pro1836=) rs786202557 0.00001
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser) rs876659849 0.00001
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp) rs769843989 0.00001
NM_001042492.3(NF1):c.5571C>T (p.Ile1857=) rs771837192 0.00001
NM_001042492.3(NF1):c.5715C>T (p.Thr1905=) rs1060503892 0.00001
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val) rs146523293 0.00001
NM_001042492.3(NF1):c.5812+326G>A rs1190292967 0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.5958A>G (p.Lys1986=) rs1216926117 0.00001
NM_001042492.3(NF1):c.6279C>T (p.Ser2093=) rs1055695069 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr) rs749672954 0.00001
NM_001042492.3(NF1):c.6345G>A (p.Pro2115=) rs779475182 0.00001
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr) rs2069704009 0.00001
NM_001042492.3(NF1):c.6558A>C (p.Ser2186=) rs753509749 0.00001
NM_001042492.3(NF1):c.6642+53T>C rs374046990 0.00001
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=) rs780247942 0.00001
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe) rs1555608742 0.00001
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala) rs1555535189 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00001
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=) rs762081710 0.00001
NM_001042492.3(NF1):c.7142A>G (p.Asn2381Ser) rs878853912 0.00001
NM_001042492.3(NF1):c.7190-4G>A rs1414521347 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.7332A>G (p.Thr2444=) rs759005886 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7397T>C (p.Ile2466Thr) rs771915484 0.00001
NM_001042492.3(NF1):c.7647A>G (p.Ser2549=) rs750342324 0.00001
NM_001042492.3(NF1):c.774A>G (p.Glu258=) rs1555608947 0.00001
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val) rs776602307 0.00001
NM_001042492.3(NF1):c.7839G>A (p.Pro2613=) rs752218441 0.00001
NM_001042492.3(NF1):c.7869+9T>C rs940367528 0.00001
NM_001042492.3(NF1):c.7971-314G>C rs1321839469 0.00001
NM_001042492.3(NF1):c.7981T>C (p.Leu2661=) rs777848844 0.00001
NM_001042492.3(NF1):c.819C>T (p.Leu273=) rs765595990 0.00001
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr) rs1406698961 0.00001
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser) rs772090874 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=) rs547090599 0.00001
NM_001042492.3(NF1):c.8478C>T (p.Ser2826=) rs770148738 0.00001
NM_001042492.3(NF1):c.876C>T (p.Asn292=) rs786202811 0.00001
NM_001042492.3(NF1):c.889-21C>T rs753797445 0.00001
NM_001042492.3(NF1):c.91C>T (p.His31Tyr) rs786202864 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001042492.3(NF1):c.1058T>G (p.Leu353Arg) rs2066510063
NM_001042492.3(NF1):c.1062+3A>T rs1057521098
NM_001042492.3(NF1):c.1063-5T>A
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg) rs1555611004
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.1185G>T (p.Lys395Asn) rs1567835847
NM_001042492.3(NF1):c.1260+1608A>G rs1231522559
NM_001042492.3(NF1):c.1277G>A (p.Trp426Ter) rs2143913707
NM_001042492.3(NF1):c.129A>T (p.Leu43=) rs759576680
NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala) rs876660915
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001042492.3(NF1):c.1393-590A>G rs2544827502
NM_001042492.3(NF1):c.1463G>C (p.Ser488Thr)
NM_001042492.3(NF1):c.1527+14T>A rs1178535900
NM_001042492.3(NF1):c.1527+14del rs772159080
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1527+2T>G rs1064796700
NM_001042492.3(NF1):c.1528-29dup rs398119783
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys) rs2544840961
NM_001042492.3(NF1):c.1642-452A>T
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala) rs2144004648
NM_001042492.3(NF1):c.1710T>C (p.Phe570=) rs1462741584
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
NM_001042492.3(NF1):c.1721+69A>G rs767159641
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr) rs2066962798
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn) rs2066963100
NM_001042492.3(NF1):c.177T>C (p.Thr59=) rs2143627216
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.183T>C (p.Ile61=) rs2143627330
NM_001042492.3(NF1):c.1868A>C (p.His623Pro)
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1997C>T (p.Ser666Phe) rs2066993930
NM_001042492.3(NF1):c.2002-12C>G rs2067014304
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn) rs876658190
NM_001042492.3(NF1):c.2213del (p.Phe738fs)
NM_001042492.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2331_2337delinsCAAAATGGGA (p.Trp777_Asp779delinsCysLysMetGly) rs2508170534
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.2420G>A (p.Ser807Asn) rs1597715090
NM_001042492.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_001042492.3(NF1):c.2544G>C (p.Gly848=) rs17883704
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.2676C>T (p.Ser892=) rs2151429417
NM_001042492.3(NF1):c.2803A>G (p.Asn935Asp) rs786201823
NM_001042492.3(NF1):c.2851-161G>C
NM_001042492.3(NF1):c.2851-21_2851-17del rs758020046
NM_001042492.3(NF1):c.288+1131T>A rs1359274260
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_001042492.3(NF1):c.2991-19T>C rs2151431421
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr) rs1555614504
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3084C>T (p.Asp1028=) rs1235103530
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3127G>T (p.Glu1043Ter) rs2151432379
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-13_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-14_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-15_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-16_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-6_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-9_3198-4del
NM_001042492.3(NF1):c.3200A>T (p.Asp1067Val) rs746785904
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs) rs2151433720
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3315-2A>G rs1555614914
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3455_3456dup (p.Leu1153fs) rs2508233035
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001042492.3(NF1):c.3541del (p.Glu1181fs) rs2508237835
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3708+3_3708+6del rs2151435840
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
NM_001042492.3(NF1):c.3765A>T (p.Gln1255His) rs766896025
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_001042492.3(NF1):c.3870+2T>A rs2151438081
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro) rs751023085
NM_001042492.3(NF1):c.3971C>T (p.Thr1324Ile) rs2067195762
NM_001042492.3(NF1):c.3974+8A>G rs2067195955
NM_001042492.3(NF1):c.4004del (p.Asn1335fs) rs2067448379
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4047C>T (p.Ala1349=) rs752621693
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter) rs1131691087
NM_001042492.3(NF1):c.4111-384G>A
NM_001042492.3(NF1):c.4118G>C (p.Cys1373Ser) rs786202990
NM_001042492.3(NF1):c.4119C>T (p.Cys1373=) rs886038394
NM_001042492.3(NF1):c.4126C>T (p.Leu1376=)
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
NM_001042492.3(NF1):c.4232T>G (p.Leu1411Arg) rs2067621676
NM_001042492.3(NF1):c.4257C>T (p.Val1419=) rs886038395
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His) rs17884349
NM_001042492.3(NF1):c.4289dup (p.Pro1431fs) rs2508409237
NM_001042492.3(NF1):c.4311G>A (p.Arg1437=) rs1060503896
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys) rs1555618559
NM_001042492.3(NF1):c.4332+8A>G rs773883353
NM_001042492.3(NF1):c.4351A>G (p.Asn1451Asp) rs1567862283
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg) rs754639587
NM_001042492.3(NF1):c.4431-21_4431-19dup rs760117122
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val) rs1060500362
NM_001042492.3(NF1):c.4471G>A (p.Ala1491Thr) rs2067663552
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=) rs775018971
NM_001042492.3(NF1):c.4533C>T (p.Leu1511=) rs1462064585
NM_001042492.3(NF1):c.4643C>T (p.Pro1548Leu)
NM_001042492.3(NF1):c.4657C>T (p.Pro1553Ser) rs1033427343
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_001042492.3(NF1):c.4697_4701del (p.Ser1566fs) rs2508430656
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.4760T>C (p.Leu1587Ser) rs2508445083
NM_001042492.3(NF1):c.4793_4807del (p.Thr1598_Gly1602del) rs2508445372
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.4814T>A (p.Ile1605Asn) rs2508445677
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4835G>A (p.Arg1612Lys) rs1555619423
NM_001042492.3(NF1):c.4877_4878delinsCA (p.His1626Pro)
NM_001042492.3(NF1):c.4902delinsAA (p.Tyr1634Ter) rs2508694786
NM_001042492.3(NF1):c.4932C>T (p.Asp1644=) rs1555533304
NM_001042492.3(NF1):c.4953C>T (p.Ser1651=) rs941643920
NM_001042492.3(NF1):c.497T>C (p.Val166Ala) rs2143707034
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=) rs1555533351
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp) rs1567611500
NM_001042492.3(NF1):c.5103_5104del (p.Lys1701_Gly1702insTer) rs2508697143
NM_001042492.3(NF1):c.5110A>T (p.Lys1704Ter) rs2151538518
NM_001042492.3(NF1):c.511A>G (p.Asn171Asp) rs1597643796
NM_001042492.3(NF1):c.514G>A (p.Val172Ile) rs1555607083
NM_001042492.3(NF1):c.520G>A (p.Val174Ile) rs1555607084
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn) rs780529277
NM_001042492.3(NF1):c.5250C>T (p.Asp1750=) rs1210732116
NM_001042492.3(NF1):c.5269-2A>G rs1555533548
NM_001042492.3(NF1):c.5411C>G (p.Ala1804Gly) rs2151541278
NM_001042492.3(NF1):c.5422A>G (p.Thr1808Ala) rs2151541307
NM_001042492.3(NF1):c.5558C>G (p.Thr1853Arg) rs2069385223
NM_001042492.3(NF1):c.5567dup (p.Asn1856fs) rs2508708204
NM_001042492.3(NF1):c.5581_5584del (p.Leu1860_Asn1861insTer) rs2508708338
NM_001042492.3(NF1):c.5585T>C (p.Leu1862Ser) rs2151541881
NM_001042492.3(NF1):c.5595dup (p.Asp1866Ter) rs2508708520
NM_001042492.3(NF1):c.5642dup (p.Cys1882fs)
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys) rs1597834706
NM_001042492.3(NF1):c.5688A>G (p.Ser1896=) rs1597834745
NM_001042492.3(NF1):c.5813-168del rs547086631
NM_001042492.3(NF1):c.5813-287C>T rs2508734299
NM_001042492.3(NF1):c.5813-40_5813-39dup rs886038397
NM_001042492.3(NF1):c.586+1G>T rs1555607126
NM_001042492.3(NF1):c.587-14T>C rs940581106
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter) rs2069603579
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr) rs1555608643
NM_001042492.3(NF1):c.5932C>T (p.Leu1978=) rs2151550569
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter) rs876659070
NM_001042492.3(NF1):c.5970A>G (p.Pro1990=) rs876658601
NM_001042492.3(NF1):c.6006+5_6006+25del rs1555534435
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6054T>G (p.Ser2018Arg) rs1555534600
NM_001042492.3(NF1):c.61-3C>A rs755724473
NM_001042492.3(NF1):c.61-7480T>C rs1297198819
NM_001042492.3(NF1):c.61-7497_61-7496dup rs1176252325
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6147+8C>T rs182709912
NM_001042492.3(NF1):c.6148-17del rs33925668
NM_001042492.3(NF1):c.6235G>C (p.Ala2079Pro) rs2151554542
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6413del (p.Gln2138fs)
NM_001042492.3(NF1):c.6425G>T (p.Ser2142Ile) rs876658896
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr) rs2069705362
NM_001042492.3(NF1):c.6585_6586dup (p.Thr2196fs) rs1131691084
NM_001042492.3(NF1):c.6642+11C>G rs375446476
NM_001042492.3(NF1):c.6642+31T>G rs2151556799
NM_001042492.3(NF1):c.6642+87G>T rs573285677
NM_001042492.3(NF1):c.6704+4T>C rs1555534930
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6799A>G (p.Ile2267Val) rs2508759741
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met) rs876659381
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7063-1G>C rs1131691114
NM_001042492.3(NF1):c.7063-7T>A rs2508779254
NM_001042492.3(NF1):c.7063-9_7063-7del rs2508779195
NM_001042492.3(NF1):c.7067C>G (p.Pro2356Arg) rs1555535402
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter) rs2069867490
NM_001042492.3(NF1):c.713C>T (p.Pro238Leu) rs1567826152
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs) rs777872719
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[4] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[5] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7190-5del rs769290414
NM_001042492.3(NF1):c.7190-5dup rs769290414
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu) rs1555536122
NM_001042492.3(NF1):c.7382T>C (p.Leu2461Pro) rs2070105653
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala) rs876658722
NM_001042492.3(NF1):c.7456A>T (p.Arg2486Trp) rs752162999
NM_001042492.3(NF1):c.7458-1G>A rs1597862012
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile) rs1555604874
NM_001042492.3(NF1):c.755dup (p.Leu252fs) rs2544753242
NM_001042492.3(NF1):c.7806T>C (p.Asn2602=) rs2070288476
NM_001042492.3(NF1):c.780C>T (p.Thr260=) rs1358425599
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile) rs1471144465
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser) rs587781791
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8001C>A (p.Thr2667=) rs876658475
NM_001042492.3(NF1):c.8016C>A (p.Cys2672Ter) rs779842988
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met) rs955074155
NM_001042492.3(NF1):c.8113+22del rs563852879
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.823_827dup (p.Cys277fs)
NM_001042492.3(NF1):c.871G>A (p.Glu291Lys) rs2143786875
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.889-25_889-21del rs17881173
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.935dup (p.Ser313fs)
NM_001042492.3(NF1):c.942G>A (p.Arg314=) rs786203445
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu) rs1597680956
NM_001042492.3(NF1):c.984T>A (p.Cys328Ter) rs2143873387

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