ClinVar Miner

List of variants in gene NF1 reported as benign for Neurofibromatosis, type 1

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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_001042492.3(NF1):c.*2829T>C rs1048317 0.65846
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.65316
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
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.6148-28T>A rs7406039 0.52859
NM_001042492.3(NF1):c.6148-29T>A rs7406038 0.51122
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.*2265C>G rs1800845 0.49084
NM_001042492.3(NF1):c.*2201G>A rs7406983 0.46089
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.2544G>A (p.Gly848=) rs17883704 0.02535
NM_001042492.3(NF1):c.*2089G>A rs17881973 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.*873A>T rs3058624 0.01500
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.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.*498T>G rs9900729 0.00833
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
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.340C>T (p.Leu114=) rs7207410 0.00309
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
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.5035A>G (p.Ile1679Val) rs147327414 0.00195
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.7062+210_7062+211insC rs1555535216 0.00177
NM_001042492.3(NF1):c.*1481A>G rs150702919 0.00160
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
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.1810T>C (p.Leu604=) rs142712751 0.00123
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.8114-70A>T rs192112633 0.00088
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.*971T>A rs147515257 0.00069
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.3198-3dup rs1555614816 0.00063
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.6379A>G (p.Ile2127Val) rs200022550 0.00053
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.*1164G>A rs140110377 0.00034
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
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.8041A>G (p.Ile2681Val) rs146315101 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.7322-16A>G rs369168102 0.00029
NM_001042492.3(NF1):c.*871A>T rs568276164 0.00028
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.369C>G (p.Thr123=) rs146691765 0.00024
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=) rs151293900 0.00018
NM_001042492.3(NF1):c.654+28A>G rs372419907 0.00018
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.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 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.960T>A (p.Ala320=) rs376447070 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00010
NM_001042492.3(NF1):c.7322-14C>T rs377244887 0.00009
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001042492.3(NF1):c.5523A>G (p.Gln1841=) rs151046636 0.00005
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 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.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505 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.529A>G (p.Ile177Val) rs766213678 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.7533C>T (p.Val2511=) rs760733171 0.00001
NM_001042492.3(NF1):c.7536C>T (p.Gly2512=) rs786203187 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.888+5G>A rs556444929 0.00001
NM_000267.3(NF1):c.730+32dup rs71142032
NM_001042492.3(NF1):c.*2777C>T rs185015732
NM_001042492.3(NF1):c.*3514G>A rs574282086
NM_001042492.3(NF1):c.*585G>T rs372804411
NM_001042492.3(NF1):c.*859AT[7] rs369548314
NM_001042492.3(NF1):c.1186-13del rs763903212
NM_001042492.3(NF1):c.1186-6C>T rs200684215
NM_001042492.3(NF1):c.1186-7del
NM_001042492.3(NF1):c.1393-3dup rs2143958470
NM_001042492.3(NF1):c.1527+14del rs772159080
NM_001042492.3(NF1):c.1527+14dup rs772159080
NM_001042492.3(NF1):c.1528-9del
NM_001042492.3(NF1):c.1528-9dup rs776722942
NM_001042492.3(NF1):c.1642-6dup rs2144003412
NM_001042492.3(NF1):c.1653T>A (p.Val551=) rs1060503902
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
NM_001042492.3(NF1):c.1721+21del
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001042492.3(NF1):c.1846-5dup rs779012139
NM_001042492.3(NF1):c.2001+22dup
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.205-8del rs2143645174
NM_001042492.3(NF1):c.2211A>T (p.Thr737=) rs1178560430
NM_001042492.3(NF1):c.2251+25dup rs768340418
NM_001042492.3(NF1):c.2409+23del
NM_001042492.3(NF1):c.2685G>T (p.Met895Ile)
NM_001042492.3(NF1):c.2851-21_2851-17del rs758020046
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-11_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-4del rs371047262
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4dup rs371047262
NM_001042492.3(NF1):c.321G>A (p.Thr107=) rs786201731
NM_001042492.3(NF1):c.3315-10dup
NM_001042492.3(NF1):c.3665C>T (p.Pro1222Leu)
NM_001042492.3(NF1):c.3709-14del
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3974+23A>T rs376217184
NM_001042492.3(NF1):c.3974+37_3974+38insG rs1555615580
NM_001042492.3(NF1):c.3975-12A>G rs750100751
NM_001042492.3(NF1):c.3975-5dup rs786202231
NM_001042492.3(NF1):c.3975-6_3975-5del rs786202231
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4578-12dup rs1597748630
NM_001042492.3(NF1):c.4725-3dup rs2151469976
NM_001042492.3(NF1):c.480-3dup rs2143706767
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=) rs1555533351
NM_001042492.3(NF1):c.5812+18del rs2151545079
NM_001042492.3(NF1):c.5813-5del rs775451791
NM_001042492.3(NF1):c.5813-5dup rs775451791
NM_001042492.3(NF1):c.587-5dup rs759349569
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6643-3dup rs35917458
NM_001042492.3(NF1):c.6705-9dup
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe) rs1597848149
NM_001042492.3(NF1):c.7189+8dup rs753952604
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7190-5del rs769290414
NM_001042492.3(NF1):c.731-8del rs1438618408
NM_001042492.3(NF1):c.7322-9del rs2151574193
NM_001042492.3(NF1):c.7870-13del rs369360556
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7870-20A>G rs574898272
NM_001042492.3(NF1):c.7971-3del
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=) rs786202936
NM_001042492.3(NF1):c.8113+22del rs563852879
NM_001042492.3(NF1):c.8161-10del
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn) rs1597870148
NM_001042492.3(NF1):c.8378-7del
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=) rs752398289
NM_001042492.3(NF1):c.888+15del rs2143787260

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