ClinVar Miner

List of variants in gene NF1 reported by Medical Genetics,University of Parma

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_000267.3(NF1):c.1392+1delG (p.Ser465Valfs) rs1060500347
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1883_1885delACGinsCC (p.Tyr628Serfs) rs1135402823
NM_000267.3(NF1):c.2034delGinsCA (p.Ile679Asnfs) rs1064796331
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.3037delA (p.Thr1013Argfs) rs1135402838
NM_000267.3(NF1):c.4076delC (p.Pro1359Leufs) rs1135402852
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.496_497delGT (p.Val166Leufs) rs1135402788
NM_000267.3(NF1):c.4973_4978delTCTATA (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5508_5509delCGinsT (p.Ala1837Hisfs) rs1135402875
NM_000267.3(NF1):c.5717delT (p.Leu1906Trpfs) rs1135402880
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5844_5845delAA (p.Arg1949Serfs) rs863224835
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.2(NF1):c.1041_1045del (p.Gln347Hisfs) rs1135402800
NM_001042492.2(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_001042492.2(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_001042492.2(NF1):c.1144del (p.Ser382Leufs) rs1135402802
NM_001042492.2(NF1):c.1152del (p.Arg385Valfs) rs1135402803
NM_001042492.2(NF1):c.1280_1292del (p.Pro427Leufs) rs1135402804
NM_001042492.2(NF1):c.1324_1325del (p.Met442Valfs) rs1135402805
NM_001042492.2(NF1):c.1374dup (p.Ala459Serfs) rs1135402806
NM_001042492.2(NF1):c.1392+1G>A rs267604791
NM_001042492.2(NF1):c.1400del (p.Thr467Asnfs) rs1135402808
NM_001042492.2(NF1):c.1460G>A (p.Arg487Lys) rs1135402809
NM_001042492.2(NF1):c.1462del (p.Ser488Alafs) rs1135402810
NM_001042492.2(NF1):c.1469_1472del (p.Lys490Ilefs) rs1135402811
NM_001042492.2(NF1):c.1477C>G (p.Leu493Val) rs1135402812
NM_001042492.2(NF1):c.1525dup (p.Cys509Leufs) rs1135402813
NM_001042492.2(NF1):c.1527+1G>C rs1060500331
NM_001042492.2(NF1):c.1561del (p.Ser521Valfs) rs1135402814
NM_001042492.2(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.2(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_001042492.2(NF1):c.1613del (p.Met538Serfs) rs1135402817
NM_001042492.2(NF1):c.1641+2delT rs1135402818
NM_001042492.2(NF1):c.1667_1670del (p.Asp556Alafs) rs1135402819
NM_001042492.2(NF1):c.1683G>A (p.Trp561Ter) rs1135402820
NM_001042492.2(NF1):c.1714_1721+5del rs1135402821
NM_001042492.2(NF1):c.1756_1759delACTA (p.Thr586Valfs) rs786202782
NM_001042492.2(NF1):c.1845+1_1845+5del rs1135402822
NM_001042492.2(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.2(NF1):c.1889T>A (p.Val630Glu) rs1135402824
NM_001042492.2(NF1):c.1918dup (p.Thr640Asnfs) rs1135402825
NM_001042492.2(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_001042492.2(NF1):c.2218G>T (p.Glu740Ter) rs1135402827
NM_001042492.2(NF1):c.2338_2343del (p.Thr780_His781del) rs1135402828
NM_001042492.2(NF1):c.2349del (p.Lys783Asnfs) rs1135402829
NM_001042492.2(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_001042492.2(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.2(NF1):c.2790T>G (p.Tyr930Ter) rs1135402832
NM_001042492.2(NF1):c.2848del (p.Gln950Argfs) rs1135402833
NM_001042492.2(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_001042492.2(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp) rs1135402835
NM_001042492.2(NF1):c.2990+1G>A rs1135402836
NM_001042492.2(NF1):c.3027del (p.Gln1010Lysfs) rs1135402837
NM_001042492.2(NF1):c.3040A>T (p.Lys1014Ter) rs1135402839
NM_001042492.2(NF1):c.3048T>A (p.Cys1016Ter) rs1135402840
NM_001042492.2(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.2(NF1):c.3113+2T>C rs876658997
NM_001042492.2(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_001042492.2(NF1):c.332_335del (p.Lys111Serfs) rs1135402787
NM_001042492.2(NF1):c.3429_3432dup (p.Thr1145Leufs) rs1135402842
NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs) rs1321848637
NM_001042492.2(NF1):c.3521A>G (p.Gln1174Arg) rs1135402843
NM_001042492.2(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_001042492.2(NF1):c.3591dup (p.Glu1198Argfs) rs1135402844
NM_001042492.2(NF1):c.3632T>G (p.Leu1211Arg) rs1135402845
NM_001042492.2(NF1):c.3651T>G (p.Asp1217Glu) rs1135402846
NM_001042492.2(NF1):c.3665delC (p.Pro1222Leufs) rs867391752
NM_001042492.2(NF1):c.3692_3708del (p.Val1231Glyfs) rs1135402848
NM_001042492.2(NF1):c.3732dup (p.Thr1245Tyrfs) rs1135402849
NM_001042492.2(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.2(NF1):c.4000del (p.Glu1334Lysfs) rs1135402851
NM_001042492.2(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_001042492.2(NF1):c.4110G>C (p.Gln1370His) rs1135402854
NM_001042492.2(NF1):c.4254del (p.Ile1418Metfs) rs1135402855
NM_001042492.2(NF1):c.4324del (p.Met1442Cysfs) rs1135402856
NM_001042492.2(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.2(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.2(NF1):c.4372G>A (p.Glu1458Lys) rs1135402858
NM_001042492.2(NF1):c.4381_4382dup (p.Met1461Ilefs) rs1135402859
NM_001042492.2(NF1):c.4382T>C (p.Met1461Thr) rs754639587
NM_001042492.2(NF1):c.4403T>G (p.Val1468Gly) rs1135402860
NM_001042492.2(NF1):c.4460del (p.Pro1487Leufs) rs1135402861
NM_001042492.2(NF1):c.4498A>G (p.Ser1500Gly) rs1135402862
NM_001042492.2(NF1):c.4520T>G (p.Leu1507Ter) rs1135402863
NM_001042492.2(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.2(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.2(NF1):c.4819del (p.Tyr1607Ilefs) rs876658492
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.2(NF1):c.4929G>T (p.Val1643=) rs17880521
NM_001042492.2(NF1):c.4998dup (p.Pro1667Serfs) rs1135402867
NM_001042492.2(NF1):c.5062G>T (p.Glu1688Ter) rs1135402869
NM_001042492.2(NF1):c.5269-1G>C rs876660141
NM_001042492.2(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.2(NF1):c.538_541del (p.Leu180Serfs) rs1135402789
NM_001042492.2(NF1):c.541_542del (p.Gln181Valfs) rs1135402790
NM_001042492.2(NF1):c.5476C>G (p.His1826Asp) rs1135402871
NM_001042492.2(NF1):c.5492G>A (p.Trp1831Ter) rs1135402872
NM_001042492.2(NF1):c.5546_5553del (p.Asp1849Glyfs) rs1135402873
NM_001042492.2(NF1):c.5571del (p.Ile1857Metfs) rs1135402874
NM_001042492.2(NF1):c.5610-2A>T rs1135402876
NM_001042492.2(NF1):c.5637del (p.Leu1880Terfs) rs1135402877
NM_001042492.2(NF1):c.5672dup (p.Leu1892Valfs) rs1135402878
NM_001042492.2(NF1):c.5687C>G (p.Ser1896Ter) rs1135402879
NM_001042492.2(NF1):c.5843dup (p.Tyr1948Terfs) rs1135402881
NM_001042492.2(NF1):c.586+2T>C rs1135402791
NM_001042492.2(NF1):c.603del (p.Phe201Leufs) rs1135402792
NM_001042492.2(NF1):c.610dup (p.Leu204Profs) rs1135402793
NM_001042492.2(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.2(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_001042492.2(NF1):c.6197del (p.Thr2066Ilefs) rs1135402883
NM_001042492.2(NF1):c.6211C>T (p.Gln2071Ter) rs1135402884
NM_001042492.2(NF1):c.6326del (p.Phe2109Serfs) rs1135402885
NM_001042492.2(NF1):c.6424A>C (p.Ser2142Arg) rs1135402886
NM_001042492.2(NF1):c.6428-2A>C rs1060500312
NM_001042492.2(NF1):c.6452_6456delTCAGTinsA (p.Leu2151Hisfs) rs1135402887
NM_001042492.2(NF1):c.6462dup (p.Glu2155Argfs) rs1135402888
NM_001042492.2(NF1):c.6545del (p.Tyr2182Serfs) rs1135402889
NM_001042492.2(NF1):c.6546_6550del (p.Tyr2182Terfs) rs1135402890
NM_001042492.2(NF1):c.6577G>T (p.Glu2193Ter) rs1135402891
NM_001042492.2(NF1):c.6600del (p.Ser2201Profs) rs1135402892
NM_001042492.2(NF1):c.6810del (p.Ser2272Alafs) rs1135402893
NM_001042492.2(NF1):c.6819+2T>C rs1135402894
NM_001042492.2(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.2(NF1):c.6878del (p.Ala2293Valfs) rs1135402895
NM_001042492.2(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.2(NF1):c.7030del (p.Thr2344Leufs) rs1135402897
NM_001042492.2(NF1):c.7062+2T>C rs1135402898
NM_001042492.2(NF1):c.7181T>G (p.Leu2394Arg) rs1135402899
NM_001042492.2(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.2(NF1):c.7260dup (p.Asn2421Terfs) rs1135402901
NM_001042492.2(NF1):c.7287del (p.Phe2429Leufs) rs1135402902
NM_001042492.2(NF1):c.7321+1G>T rs1135402903
NM_001042492.2(NF1):c.7337_7338del (p.Ser2446Terfs) rs1135402904
NM_001042492.2(NF1):c.7383del (p.Leu2462Phefs) rs1135402905
NM_001042492.2(NF1):c.7409dup (p.Asn2470Lysfs) rs1135402906
NM_001042492.2(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.2(NF1):c.7747_7748delAG (p.Arg2583Aspfs) rs1135402907
NM_001042492.2(NF1):c.7782del (p.Val2596Phefs) rs1135402908
NM_001042492.2(NF1):c.7838dup (p.Lys2614Glufs) rs1131691129
NM_001042492.2(NF1):c.789del (p.Ala264Glnfs) rs1135402795
NM_001042492.2(NF1):c.792del (p.Ala265Glnfs) rs1135402796
NM_001042492.2(NF1):c.8160+2T>G rs1135402909
NM_001042492.2(NF1):c.8176G>A (p.Asp2726Asn) rs1135402910
NM_001042492.2(NF1):c.862del (p.Val288Trpfs) rs1135402797
NM_001042492.2(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_001042492.2(NF1):c.888+1G>C rs1135402799
NM_001042492.2(NF1):c.889-1G>A rs587781517

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