ClinVar Miner

List of variants in gene NF1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP
GRCh37/hg19 17q11.2(chr17:29686894-29711411)x3
NM_000267.3(NF1):c.1052T>C (p.Val351Ala) rs878853861
NM_000267.3(NF1):c.1062G>C (p.Lys354Asn)
NM_000267.3(NF1):c.1069C>T (p.Leu357Phe) rs1567835662
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103
NM_000267.3(NF1):c.1108C>T (p.Pro370Ser) rs878853862
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145
NM_000267.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_000267.3(NF1):c.1308G>A (p.Ser436=) rs765425127
NM_000267.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_000267.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_000267.3(NF1):c.1393-2dup rs1394021280
NM_000267.3(NF1):c.145T>A (p.Tyr49Asn) rs764367878
NM_000267.3(NF1):c.1527+2T>G rs1064796700
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696
NM_000267.3(NF1):c.1605G>A (p.Gln535=) rs1567843919
NM_000267.3(NF1):c.1633G>C (p.Ala545Pro) rs1567843945
NM_000267.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_000267.3(NF1):c.1662G>T (p.Gln554His) rs147594815
NM_000267.3(NF1):c.1722-24A>G rs1567845793
NM_000267.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_000267.3(NF1):c.1814T>C (p.Ile605Thr) rs386833409
NM_000267.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_000267.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267
NM_000267.3(NF1):c.1900A>G (p.Ile634Val) rs745906742
NM_000267.3(NF1):c.1998T>C (p.Ser666=) rs1567846823
NM_000267.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.204+5G>C rs1131691499
NM_000267.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_000267.3(NF1):c.2123C>T (p.Ser708Phe) rs1567847493
NM_000267.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_000267.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667
NM_000267.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845
NM_000267.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_000267.3(NF1):c.2294G>T (p.Arg765Leu)
NM_000267.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2462G>T (p.Ser821Ile) rs1303972238
NM_000267.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721
NM_000267.3(NF1):c.2517C>T (p.Asn839=) rs876659543
NM_000267.3(NF1):c.2518A>G (p.Met840Val)
NM_000267.3(NF1):c.2523_2524insAAG (p.Gly842_Phe843insLys) rs1555614222
NM_000267.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270
NM_000267.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.2767C>A (p.Leu923Ile) rs1567849138
NM_000267.3(NF1):c.2810T>G (p.Leu937Trp) rs1567849184
NM_000267.3(NF1):c.2902A>G (p.Met968Val) rs587781499
NM_000267.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_000267.3(NF1):c.2971A>G (p.Met991Val) rs1268543864
NM_000267.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502
NM_000267.3(NF1):c.304A>G (p.Met102Val) rs756370324
NM_000267.3(NF1):c.3061G>C (p.Val1021Leu)
NM_000267.3(NF1):c.3103A>G (p.Met1035Val) rs771694969
NM_000267.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_000267.3(NF1):c.3187T>C (p.Cys1063Arg)
NM_000267.3(NF1):c.3197+3A>G rs1359512152
NM_000267.3(NF1):c.3198-5T>G
NM_000267.3(NF1):c.320C>T (p.Thr107Met) rs1567817857
NM_000267.3(NF1):c.3216C>G (p.Ser1072Arg) rs1567850647
NM_000267.3(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_000267.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_000267.3(NF1):c.3495A>G (p.Ile1165Met) rs876660814
NM_000267.3(NF1):c.354C>T (p.Cys118=) rs768777585
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3646G>T (p.Gly1216Cys) rs1567851424
NM_000267.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071
NM_000267.3(NF1):c.374G>A (p.Arg125His) rs149003051
NM_000267.3(NF1):c.3765A>T (p.Gln1255His)
NM_000267.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_000267.3(NF1):c.3867C>G (p.Phe1289Leu) rs138186428
NM_000267.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591
NM_000267.3(NF1):c.392C>T (p.Ala131Val) rs1567817930
NM_000267.3(NF1):c.3947A>G (p.His1316Arg) rs751023085
NM_000267.3(NF1):c.3974+260T>G rs1567853044
NM_000267.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206
NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_000267.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_000267.3(NF1):c.4010G>T (p.Arg1337Leu)
NM_000267.3(NF1):c.4018C>T (p.Leu1340Phe) rs876658268
NM_000267.3(NF1):c.4048A>G (p.Ile1350Val) rs1567858357
NM_000267.3(NF1):c.404G>A (p.Arg135Gln) rs1060500244
NM_000267.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_000267.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377
NM_000267.3(NF1):c.4110+3828C>T rs764123241
NM_000267.3(NF1):c.4144G>A (p.Gly1382Ser) rs138227618
NM_000267.3(NF1):c.4156A>G (p.Ser1386Gly) rs587781755
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.4184C>A (p.Pro1395His) rs1555618521
NM_000267.3(NF1):c.4189A>G (p.Ile1397Val) rs369345045
NM_000267.3(NF1):c.4227_4228delinsCT (p.Lys1409_Pro1410delinsAsnSer) rs1567862024
NM_000267.3(NF1):c.4382T>C (p.Ile1461Thr) rs746994734
NM_000267.3(NF1):c.4399A>G (p.Thr1467Ala) rs876660162
NM_000267.3(NF1):c.4418A>T (p.His1473Leu)
NM_000267.3(NF1):c.4444A>C (p.Asn1482His) rs1555618837
NM_000267.3(NF1):c.4463G>A (p.Arg1488His) rs546073780
NM_000267.3(NF1):c.4561C>G (p.Leu1521Val) rs1555619011
NM_000267.3(NF1):c.4609C>T (p.His1537Tyr) rs1468638747
NM_000267.3(NF1):c.4658C>T (p.Thr1553Ile) rs1567863650
NM_000267.3(NF1):c.4673A>G (p.His1558Arg) rs1275751975
NM_000267.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4750A>G (p.Ile1584Val) rs199474766
NM_000267.3(NF1):c.475A>G (p.Thr159Ala) rs371192107
NM_000267.3(NF1):c.4768C>T (p.Arg1590Trp) rs1060500316
NM_000267.3(NF1):c.478A>G (p.Arg160Gly) rs1555606128
NM_000267.3(NF1):c.479+6T>C rs1567818036
NM_000267.3(NF1):c.4817T>A (p.Val1606Asp) rs1567611231
NM_000267.3(NF1):c.4829T>C (p.Leu1610Ser) rs1555533292
NM_000267.3(NF1):c.4880C>T (p.Thr1627Ile) rs376655102
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4974C>G (p.Ile1658Met) rs1555533349
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.512A>G (p.Asn171Ser) rs767500770
NM_000267.3(NF1):c.514G>A (p.Val172Ile) rs1555607083
NM_000267.3(NF1):c.5152G>C (p.Val1718Leu) rs876659956
NM_000267.3(NF1):c.5206-14C>G
NM_000267.3(NF1):c.5230A>G (p.Thr1744Ala) rs747584987
NM_000267.3(NF1):c.5251G>C (p.Val1751Leu) rs1567612377
NM_000267.3(NF1):c.527A>G (p.Asp176Gly) rs1567820732
NM_000267.3(NF1):c.5288A>T (p.Tyr1763Phe) rs1060500280
NM_000267.3(NF1):c.5295G>A (p.Ser1765=) rs373313111
NM_000267.3(NF1):c.529A>G (p.Ile177Val) rs766213678
NM_000267.3(NF1):c.5344A>G (p.Ile1782Val) rs559910904
NM_000267.3(NF1):c.5363C>T (p.Pro1788Leu) rs587782220
NM_000267.3(NF1):c.5379C>G (p.His1793Gln)
NM_000267.3(NF1):c.5419C>T (p.Arg1807Trp) rs1555533609
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5460A>T (p.Gln1820His) rs151046636
NM_000267.3(NF1):c.5470A>T (p.Ile1824Phe) rs1567612641
NM_000267.3(NF1):c.5489C>G (p.Pro1830Arg) rs1555533638
NM_000267.3(NF1):c.5489C>T (p.Pro1830Leu) rs1555533638
NM_000267.3(NF1):c.5511A>G (p.Ala1837=) rs760561904
NM_000267.3(NF1):c.5528G>C (p.Ser1843Thr) rs1567612716
NM_000267.3(NF1):c.5562_5564TCT[1] (p.Leu1856del) rs1131691081
NM_000267.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_000267.3(NF1):c.5642C>T (p.Ala1881Val) rs1465309384
NM_000267.3(NF1):c.5692G>A (p.Glu1898Lys) rs1227869359
NM_000267.3(NF1):c.5749+6T>G rs1555533893
NM_000267.3(NF1):c.5843A>T (p.Gln1948Leu) rs143502927
NM_000267.3(NF1):c.586+5G>C
NM_000267.3(NF1):c.5888A>G (p.Asn1963Ser) rs764291252
NM_000267.3(NF1):c.5890G>A (p.Glu1964Lys) rs1567615890
NM_000267.3(NF1):c.5932A>T (p.Ser1978Cys)
NM_000267.3(NF1):c.5968C>G (p.Leu1990Val) rs1567616649
NM_000267.3(NF1):c.5974A>G (p.Ser1992Gly) rs876658710
NM_000267.3(NF1):c.6232C>T (p.His2078Tyr) rs1060500382
NM_000267.3(NF1):c.6365-3C>A rs374014162
NM_000267.3(NF1):c.6365-3C>T rs374014162
NM_000267.3(NF1):c.6386_6397del (p.Arg2129_Leu2132del) rs1555534860
NM_000267.3(NF1):c.6472C>T (p.Arg2158Cys) rs878853908
NM_000267.3(NF1):c.6558A>C (p.Glu2186Asp)
NM_000267.3(NF1):c.6560C>G (p.Ala2187Gly) rs1555534886
NM_000267.3(NF1):c.6579+11C>G rs375446476
NM_000267.3(NF1):c.6579G>C (p.Glu2193Asp)
NM_000267.3(NF1):c.6601A>G (p.Thr2201Ala) rs745945481
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6719A>G (p.His2240Arg) rs201336602
NM_000267.3(NF1):c.6727A>G (p.Ile2243Val)
NM_000267.3(NF1):c.6727A>T (p.Ile2243Leu) rs761213794
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6858G>T (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6859-13T>A
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.6905T>C (p.Leu2302Pro) rs1131691267
NM_000267.3(NF1):c.695C>T (p.Thr232Ile) rs769719064
NM_000267.3(NF1):c.6964C>T (p.His2322Tyr) rs781578248
NM_000267.3(NF1):c.6982C>T (p.Arg2328Cys) rs56013763
NM_000267.3(NF1):c.6983G>A (p.Arg2328His) rs864622065
NM_000267.3(NF1):c.7028G>A (p.Arg2343Gln) rs1555535407
NM_000267.3(NF1):c.7130A>G (p.Tyr2377Cys) rs1567623401
NM_000267.3(NF1):c.713C>T (p.Pro238Leu) rs1567826152
NM_000267.3(NF1):c.723_731del (p.Asp241_Ala243del) rs1567826158
NM_000267.3(NF1):c.7271T>G (p.Val2424Gly) rs1567623931
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.7307A>G (p.His2436Arg) rs863224664
NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.734G>T (p.Cys245Phe) rs587781869
NM_000267.3(NF1):c.7363T>C (p.Tyr2455His) rs864622745
NM_000267.3(NF1):c.7379G>T (p.Gly2460Val) rs786202540
NM_000267.3(NF1):c.7394+5G>A rs1555536171
NM_000267.3(NF1):c.7395-3C>G rs1158267419
NM_000267.3(NF1):c.7421C>T (p.Ser2474Phe) rs757245615
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7580T>A (p.Ile2527Lys)
NM_000267.3(NF1):c.7630A>G (p.Thr2544Ala) rs786202548
NM_000267.3(NF1):c.7718G>A (p.Arg2573His) rs774781617
NM_000267.3(NF1):c.7761A>T (p.Glu2587Asp) rs1567626984
NM_000267.3(NF1):c.7762G>A (p.Val2588Ile) rs786203848
NM_000267.3(NF1):c.7762G>C (p.Val2588Leu) rs786203848
NM_000267.3(NF1):c.7775C>T (p.Pro2592Leu) rs750972729
NM_000267.3(NF1):c.7778A>G (p.Lys2593Arg) rs587781502
NM_000267.3(NF1):c.7804C>G (p.Leu2602Val) rs1555536721
NM_000267.3(NF1):c.7806+5G>C rs1555536725
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000267.3(NF1):c.7900C>T (p.Pro2634Ser) rs587781791
NM_000267.3(NF1):c.7907+4_7907+7del rs1064794279
NM_000267.3(NF1):c.7935C>T (p.Asn2645=) rs747307832
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8087C>T (p.Pro2696Leu) rs778799019
NM_000267.3(NF1):c.8120C>T (p.Ala2707Val) rs760973918
NM_000267.3(NF1):c.8153T>C (p.Ile2718Thr) rs752541243
NM_000267.3(NF1):c.8393G>A (p.Ser2798Asn) rs934837854
NM_000267.3(NF1):c.83A>C (p.Gln28Pro) rs587782686
NM_000267.3(NF1):c.8414G>C (p.Ser2805Thr) rs1057523477
NM_000267.3(NF1):c.8427C>A (p.Phe2809Leu) rs760550772
NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531
NM_000267.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_000267.3(NF1):c.913A>G (p.Lys305Glu) rs1567835041
NM_000267.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_000267.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827

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