ClinVar Miner

List of variants in gene NF1 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001042492.3(NF1):c.6148-29_6148-28insA rs66638017 0.03789
NM_001042492.3(NF1):c.7738+46G>A rs199641099 0.00422
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001042492.3(NF1):c.6148-30T>A rs199874130 0.00348
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
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 0.00127
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001042492.3(NF1):c.*29A>G rs139147882 0.00096
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
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.6921+40A>G rs188244160 0.00065
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.6147+11T>C rs201275748 0.00058
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
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.6922-16A>G rs202158964 0.00030
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
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.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001042492.3(NF1):c.3708+19C>T rs371590712 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_001042492.3(NF1):c.2838C>T (p.Asp946=) rs147188807 0.00013
NM_001042492.3(NF1):c.61-13del rs1215659707 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.2325+16C>G rs371709563 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.7739-33G>A rs199706010 0.00009
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=) rs148662566 0.00007
NM_001042492.3(NF1):c.1186-19T>A rs772566923 0.00006
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.393A>C (p.Ala131=) rs761086521 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.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001042492.3(NF1):c.5523A>G (p.Gln1841=) rs151046636 0.00005
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.5664C>T (p.Ile1888=) rs373685150 0.00004
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=) rs779114598 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.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001042492.3(NF1):c.3315-8T>C rs764783865 0.00003
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=) rs864622298 0.00003
NM_001042492.3(NF1):c.5424G>A (p.Thr1808=) rs765841113 0.00003
NM_001042492.3(NF1):c.5649C>T (p.Thr1883=) rs139696493 0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=) rs368691517 0.00003
NM_001042492.3(NF1):c.8223G>C (p.Thr2741=) rs777755159 0.00003
NM_001042492.3(NF1):c.8394C>T (p.Asn2798=) rs376136174 0.00003
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=) rs143289497 0.00003
NM_001042492.3(NF1):c.861C>T (p.Asp287=) rs749949219 0.00003
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630 0.00002
NM_001042492.3(NF1):c.4434T>C (p.Phe1478=) rs1310523976 0.00002
NM_001042492.3(NF1):c.5574A>G (p.Ala1858=) rs760561904 0.00002
NM_001042492.3(NF1):c.6060A>G (p.Thr2020=) rs761889172 0.00002
NM_001042492.3(NF1):c.7170G>A (p.Leu2390=) rs751081026 0.00002
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=) rs139527415 0.00002
NM_001042492.3(NF1):c.1173C>T (p.Asn391=) rs367986994 0.00001
NM_001042492.3(NF1):c.1186-4A>G rs769295150 0.00001
NM_001042492.3(NF1):c.132C>A (p.Ile44=) rs765778199 0.00001
NM_001042492.3(NF1):c.1587C>T (p.Leu529=) rs786203041 0.00001
NM_001042492.3(NF1):c.1974C>A (p.Leu658=) rs751318331 0.00001
NM_001042492.3(NF1):c.2061A>G (p.Leu687=) rs143671377 0.00001
NM_001042492.3(NF1):c.235T>C (p.Leu79=) rs764855221 0.00001
NM_001042492.3(NF1):c.2361A>G (p.Ala787=) rs371589922 0.00001
NM_001042492.3(NF1):c.2490C>T (p.Asp830=) rs786201629 0.00001
NM_001042492.3(NF1):c.2502A>G (p.Leu834=) rs953405312 0.00001
NM_001042492.3(NF1):c.2619T>C (p.Arg873=) rs766212733 0.00001
NM_001042492.3(NF1):c.3111T>C (p.Phe1037=) rs200240170 0.00001
NM_001042492.3(NF1):c.3198-5T>C rs587782639 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 0.00001
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His) rs778920556 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 0.00001
NM_001042492.3(NF1):c.4110+14T>C rs1019229165 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4431-17A>T rs754657048 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=) rs754023358 0.00001
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=) rs864622747 0.00001
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=) rs759291615 0.00001
NM_001042492.3(NF1):c.5229T>C (p.Ala1743=) rs876657546 0.00001
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=) rs779104728 0.00001
NM_001042492.3(NF1):c.594A>T (p.Ala198=) rs138411879 0.00001
NM_001042492.3(NF1):c.6546C>T (p.Tyr2182=) rs876659768 0.00001
NM_001042492.3(NF1):c.6549G>A (p.Arg2183=) rs1028183407 0.00001
NM_001042492.3(NF1):c.6552C>T (p.Asp2184=) rs376808264 0.00001
NM_001042492.3(NF1):c.6558A>C (p.Ser2186=) rs753509749 0.00001
NM_001042492.3(NF1):c.6704+3A>G rs375560135 0.00001
NM_001042492.3(NF1):c.7086A>C (p.Ala2362=) rs1241296625 0.00001
NM_001042492.3(NF1):c.7191G>A (p.Gly2397=) rs773474652 0.00001
NM_001042492.3(NF1):c.7479A>G (p.Pro2493=) rs144957306 0.00001
NM_001042492.3(NF1):c.7870-19C>T rs542314717 0.00001
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=) rs760433938 0.00001
NM_001042492.3(NF1):c.8377+20A>G rs201289884 0.00001
NM_001042492.3(NF1):c.8478C>T (p.Ser2826=) rs770148738 0.00001
NM_001042492.3(NF1):c.1261-30T>G rs1232901516
NM_001042492.3(NF1):c.1332T>C (p.Gly444=) rs1597688871
NM_001042492.3(NF1):c.1393-31G>A rs564424477
NM_001042492.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_001042492.3(NF1):c.1554C>A (p.Thr518=) rs876660849
NM_001042492.3(NF1):c.1721+5A>G rs876658961
NM_001042492.3(NF1):c.1764T>C (p.His588=) rs1229784876
NM_001042492.3(NF1):c.1845+17_1845+18del rs765979407
NM_001042492.3(NF1):c.2028C>G (p.Thr676=) rs878853873
NM_001042492.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.2544G>C (p.Gly848=) rs17883704
NM_001042492.3(NF1):c.2661A>G (p.Ala887=) rs1555614292
NM_001042492.3(NF1):c.2739A>C (p.Ile913=)
NM_001042492.3(NF1):c.2803A>G (p.Asn935Asp) rs786201823
NM_001042492.3(NF1):c.2851-21_2851-17del rs758020046
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-5_3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4insC rs1555614804
NM_001042492.3(NF1):c.3198-7_3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-9_3198-4dup rs371047262
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_001042492.3(NF1):c.3375G>T (p.Ala1125=) rs112589561
NM_001042492.3(NF1):c.3974+49del rs59745739
NM_001042492.3(NF1):c.4119C>T (p.Cys1373=) rs886038394
NM_001042492.3(NF1):c.4257C>T (p.Val1419=) rs886038395
NM_001042492.3(NF1):c.4431-21_4431-19dup rs760117122
NM_001042492.3(NF1):c.4626T>C (p.Leu1542=) rs1555619012
NM_001042492.3(NF1):c.4725-3T>C rs892441625
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=) rs876657545
NM_001042492.3(NF1):c.5742A>T (p.Thr1914=) rs1555533874
NM_001042492.3(NF1):c.5813-40_5813-39dup rs886038397
NM_001042492.3(NF1):c.6072A>G (p.Gly2024=) rs2151553361
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6148-12_6148-10del rs1555534655
NM_001042492.3(NF1):c.6148-17_6148-16insCA rs2151554187
NM_001042492.3(NF1):c.6148-28del rs398100472
NM_001042492.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=) rs876657547
NM_001042492.3(NF1):c.6732G>A (p.Leu2244=) rs876657548
NM_001042492.3(NF1):c.7158T>C (p.Phe2386=) rs876660271
NM_001042492.3(NF1):c.7189+8dup rs753952604
NM_001042492.3(NF1):c.7284A>G (p.Lys2428=) rs1555536034
NM_001042492.3(NF1):c.730+32del rs71142032
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152
NM_001042492.3(NF1):c.7344A>G (p.Glu2448=) rs374234848
NM_001042492.3(NF1):c.7458-18A>G rs371362605
NM_001042492.3(NF1):c.753C>T (p.Asp251=) rs1567826636
NM_001042492.3(NF1):c.7616-9T>C rs1555536631
NM_001042492.3(NF1):c.7830T>G (p.Leu2610=) rs1555536705
NM_001042492.3(NF1):c.8031G>A (p.Leu2677=) rs1555536905
NM_001042492.3(NF1):c.8286C>T (p.Tyr2762=) rs1597870245
NM_001042492.3(NF1):c.8378-9T>C rs1453787016
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr) rs199878086

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