ClinVar Miner

List of variants reported for Neurofibromatosis, type 1 by Medical Genetics, University of Parma

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ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001042492.3(NF1):c.7062+210_7062+211insC rs1555535216 0.00177
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.654+28A>G rs372419907 0.00018
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.655-37A>C rs375655707 0.00014
NM_001042492.3(NF1):c.3974+141T>C rs779226804 0.00013
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
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.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.60+16C>A rs780674112 0.00002
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys) rs587781725 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001042492.3(NF1):c.7647A>G (p.Ser2549=) rs750342324 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1041_1045del (p.Gln347fs) rs1135402800
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_001042492.3(NF1):c.1152del (p.Arg385fs) rs1135402803
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1280_1292del (p.Pro427fs) rs1135402804
NM_001042492.3(NF1):c.1324_1325del (p.Met442fs) rs1135402805
NM_001042492.3(NF1):c.1374dup (p.Ala459fs) rs1135402806
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1392+1del rs1060500347
NM_001042492.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_001042492.3(NF1):c.1460G>A (p.Arg487Lys) rs1135402809
NM_001042492.3(NF1):c.1462del (p.Ser488fs) rs1135402810
NM_001042492.3(NF1):c.1469_1472del (p.Lys490fs) rs1135402811
NM_001042492.3(NF1):c.1477C>G (p.Leu493Val) rs1135402812
NM_001042492.3(NF1):c.1525dup (p.Cys509fs) rs1135402813
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1561del (p.Ser521fs) rs1135402814
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_001042492.3(NF1):c.1613del (p.Met538fs) rs1135402817
NM_001042492.3(NF1):c.1641+2del rs1135402818
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_001042492.3(NF1):c.1683G>A (p.Trp561Ter) rs1135402820
NM_001042492.3(NF1):c.1714_1721+5del rs1135402821
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1845+1_1845+5del rs1135402822
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.3(NF1):c.1883_1885delinsCC (p.Tyr628fs) rs1135402823
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1889T>A (p.Val630Glu) rs1135402824
NM_001042492.3(NF1):c.1918dup (p.Thr640fs) rs1135402825
NM_001042492.3(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_001042492.3(NF1):c.2218G>T (p.Glu740Ter) rs1135402827
NM_001042492.3(NF1):c.2322T>C (p.Thr774=) rs770111990
NM_001042492.3(NF1):c.2326-6T>G rs1597713670
NM_001042492.3(NF1):c.2338_2343del (p.Thr780_His781del) rs1135402828
NM_001042492.3(NF1):c.2349del (p.Lys783fs) rs1135402829
NM_001042492.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.2790T>G (p.Tyr930Ter) rs1135402832
NM_001042492.3(NF1):c.2848del (p.Gln950fs) rs1135402833
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe) rs1597716277
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp) rs1135402835
NM_001042492.3(NF1):c.289-22A>C rs2143669668
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.3027del (p.Gln1010fs) rs1135402837
NM_001042492.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_001042492.3(NF1):c.3040A>T (p.Lys1014Ter) rs1135402839
NM_001042492.3(NF1):c.3048T>A (p.Cys1016Ter) rs1135402840
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3112A>G (p.Arg1038Gly) rs1597717017
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_001042492.3(NF1):c.332_335del (p.Lys111fs) rs1135402787
NM_001042492.3(NF1):c.3429_3432dup (p.Thr1145fs) rs1135402842
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp) rs2067138342
NM_001042492.3(NF1):c.3496+3G>T rs1060500287
NM_001042492.3(NF1):c.3521A>G (p.Gln1174Arg) rs1135402843
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr) rs2151435523
NM_001042492.3(NF1):c.3591dup (p.Glu1198fs) rs1135402844
NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg) rs1135402845
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_001042492.3(NF1):c.3651T>G (p.Asp1217Glu) rs1135402846
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.3692_3708del (p.Val1231fs) rs1135402848
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.4000del (p.Glu1334fs) rs1135402851
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_001042492.3(NF1):c.4109_4110delinsCC (p.Gln1370Pro) rs2151451687
NM_001042492.3(NF1):c.4110G>C (p.Gln1370His) rs1135402854
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr) rs1555618518
NM_001042492.3(NF1):c.4254del (p.Ile1418fs) rs1135402855
NM_001042492.3(NF1):c.4324del (p.Met1442fs) rs1135402856
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.3(NF1):c.4372G>A (p.Glu1458Lys) rs1135402858
NM_001042492.3(NF1):c.4381_4382dup (p.Met1461fs) rs1135402859
NM_001042492.3(NF1):c.4403T>G (p.Val1468Gly) rs1135402860
NM_001042492.3(NF1):c.4460del (p.Pro1487fs) rs1135402861
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly) rs1135402862
NM_001042492.3(NF1):c.4520T>G (p.Leu1507Ter) rs1135402863
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs) rs876658492
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4915T>G (p.Tyr1639Asp) rs2151537742
NM_001042492.3(NF1):c.4929G>T (p.Val1643=) rs17880521
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.4998dup (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5062G>T (p.Glu1688Ter) rs1135402869
NM_001042492.3(NF1):c.5268+5G>A rs864622551
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.538_541del (p.Leu180fs) rs1135402789
NM_001042492.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp) rs1135402871
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn) rs2143707759
NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter) rs1135402872
NM_001042492.3(NF1):c.5546_5553del (p.Asp1849fs) rs1135402873
NM_001042492.3(NF1):c.5571_5572delinsT (p.Ala1858fs) rs1135402875
NM_001042492.3(NF1):c.5571del (p.Ile1857fs) rs1135402874
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5637del (p.Ala1879_Leu1880insTer) rs1135402877
NM_001042492.3(NF1):c.5672dup (p.Leu1892fs) rs1135402878
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.5780del (p.Leu1927fs) rs1135402880
NM_001042492.3(NF1):c.5812+5G>A rs1555533889
NM_001042492.3(NF1):c.5843dup (p.Tyr1948Ter) rs1135402881
NM_001042492.3(NF1):c.586+2T>C rs1135402791
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs) rs863224835
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala) rs2069668717
NM_001042492.3(NF1):c.603del (p.Phe201fs) rs1135402792
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro) rs1567616704
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_001042492.3(NF1):c.6197del (p.Thr2066fs) rs1135402883
NM_001042492.3(NF1):c.6211C>T (p.Gln2071Ter) rs1135402884
NM_001042492.3(NF1):c.6326del (p.Phe2109fs) rs1135402885
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg) rs1135402886
NM_001042492.3(NF1):c.6428-2A>C rs1060500312
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6452_6456delinsA (p.Leu2151fs) rs1135402887
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.6545del (p.Tyr2182fs) rs1135402889
NM_001042492.3(NF1):c.6546_6550del (p.Tyr2182_Asp2184delinsTer) rs1135402890
NM_001042492.3(NF1):c.6577G>T (p.Glu2193Ter) rs1135402891
NM_001042492.3(NF1):c.6600del (p.Ser2201fs) rs1135402892
NM_001042492.3(NF1):c.6642+1G>T rs1060500345
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6685T>G (p.Trp2229Gly) rs1060500342
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6810del (p.Ser2272fs) rs1135402893
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6878del (p.Ala2293fs) rs1135402895
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.3(NF1):c.7013T>G (p.Leu2338Arg) rs2151561836
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg) rs2151561874
NM_001042492.3(NF1):c.7030del (p.Thr2344fs) rs1135402897
NM_001042492.3(NF1):c.7041T>C (p.Ser2347=) rs746322836
NM_001042492.3(NF1):c.7062+2T>C rs1135402898
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg) rs1135402899
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7241A>C (p.His2414Pro) rs876659855
NM_001042492.3(NF1):c.7260dup (p.Asn2421Ter) rs1135402901
NM_001042492.3(NF1):c.7287del (p.Phe2429fs) rs1135402902
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.7321+1G>T rs1135402903
NM_001042492.3(NF1):c.7337_7338del (p.Val2445_Ser2446insTer) rs1135402904
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7383del (p.Leu2462fs) rs1135402905
NM_001042492.3(NF1):c.7409dup (p.Asn2470fs) rs1135402906
NM_001042492.3(NF1):c.7416T>C (p.Pro2472=) rs876659624
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7782del (p.Val2596fs) rs1135402908
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs) rs1131691129
NM_001042492.3(NF1):c.789del (p.Ala264fs) rs1135402795
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.792del (p.Ala265fs) rs1135402796
NM_001042492.3(NF1):c.7931C>A (p.Ala2644Glu) rs766494934
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8160+2T>G rs1135402909
NM_001042492.3(NF1):c.8176G>A (p.Asp2726Asn) rs1135402910
NM_001042492.3(NF1):c.862del (p.Val288fs) rs1135402797
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_001042492.3(NF1):c.888+1G>C rs1135402799
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950

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