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.1041_1045del (p.Gln347fs) rs1135402800
NM_000267.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_000267.3(NF1):c.1152del (p.Arg385fs) rs1135402803
NM_000267.3(NF1):c.1280_1292del (p.Pro427fs) rs1135402804
NM_000267.3(NF1):c.1322_1323AT[1] (p.Met442fs) rs1135402805
NM_000267.3(NF1):c.1374dup (p.Ala459fs) rs1135402806
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1392+1del rs1060500347
NM_000267.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_000267.3(NF1):c.1460G>A (p.Arg487Lys) rs1135402809
NM_000267.3(NF1):c.1462del (p.Ser488fs) rs1135402810
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1469_1472del (p.Lys490fs) rs1135402811
NM_000267.3(NF1):c.1477C>G (p.Leu493Val) rs1135402812
NM_000267.3(NF1):c.1525dup (p.Cys509fs) rs1135402813
NM_000267.3(NF1):c.1527+1G>C rs1060500331
NM_000267.3(NF1):c.1561del (p.Ser521fs) rs1135402814
NM_000267.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_000267.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_000267.3(NF1):c.1613del (p.Met538fs) rs1135402817
NM_000267.3(NF1):c.1641+2del rs1135402818
NM_000267.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_000267.3(NF1):c.1683G>A (p.Trp561Ter) rs1135402820
NM_000267.3(NF1):c.1714_1721+5del rs1135402821
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1845+1_1845+5del rs1135402822
NM_000267.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_000267.3(NF1):c.1883_1885delinsCC (p.Tyr628fs) rs1135402823
NM_000267.3(NF1):c.1889T>A (p.Val630Glu) rs1135402824
NM_000267.3(NF1):c.1918dup (p.Thr640fs) rs1135402825
NM_000267.3(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_000267.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_000267.3(NF1):c.2218G>T (p.Glu740Ter) rs1135402827
NM_000267.3(NF1):c.2338_2343del (p.Thr780_His781del) rs1135402828
NM_000267.3(NF1):c.2349del (p.Lys783fs) rs1135402829
NM_000267.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_000267.3(NF1):c.2790T>G (p.Tyr930Ter) rs1135402832
NM_000267.3(NF1):c.2848del (p.Gln950fs) rs1135402833
NM_000267.3(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_000267.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp) rs1135402835
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.3027del (p.Gln1010fs) rs1135402837
NM_000267.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_000267.3(NF1):c.3040A>T (p.Lys1014Ter) rs1135402839
NM_000267.3(NF1):c.3048T>A (p.Cys1016Ter) rs1135402840
NM_000267.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_000267.3(NF1):c.3113+2T>C rs876658997
NM_000267.3(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_000267.3(NF1):c.332_335del (p.Lys111fs) rs1135402787
NM_000267.3(NF1):c.3429_3432dup (p.Thr1145fs) rs1135402842
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3521A>G (p.Gln1174Arg) rs1135402843
NM_000267.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_000267.3(NF1):c.3591dup (p.Glu1198fs) rs1135402844
NM_000267.3(NF1):c.3632T>G (p.Leu1211Arg) rs1135402845
NM_000267.3(NF1):c.3651T>G (p.Asp1217Glu) rs1135402846
NM_000267.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_000267.3(NF1):c.3692_3708del (p.Val1231fs) rs1135402848
NM_000267.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.4000del (p.Glu1334fs) rs1135402851
NM_000267.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_000267.3(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_000267.3(NF1):c.4110G>C (p.Gln1370His) rs1135402854
NM_000267.3(NF1):c.4191del (p.Ile1397fs) rs1135402855
NM_000267.3(NF1):c.4261del (p.Met1421fs) rs1135402856
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
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.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4309G>A (p.Glu1437Lys) rs1135402858
NM_000267.3(NF1):c.4316_4317AT[3] (p.Met1440fs) rs1135402859
NM_000267.3(NF1):c.4319T>C (p.Met1440Thr) rs754639587
NM_000267.3(NF1):c.4340T>G (p.Val1447Gly) rs1135402860
NM_000267.3(NF1):c.4397del (p.Pro1466fs) rs1135402861
NM_000267.3(NF1):c.4435A>G (p.Ser1479Gly) rs1135402862
NM_000267.3(NF1):c.4457T>G (p.Leu1486Ter) rs1135402863
NM_000267.3(NF1):c.4469T>G (p.Leu1490Arg) rs1135402864
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.4756del (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>T (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4935dup (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_000267.3(NF1):c.4999G>T (p.Glu1667Ter) rs1135402869
NM_000267.3(NF1):c.5206-1G>C rs876660141
NM_000267.3(NF1):c.5322T>A (p.Asp1774Glu) rs1135402870
NM_000267.3(NF1):c.538_541del (p.Leu180fs) rs1135402789
NM_000267.3(NF1):c.5413C>G (p.His1805Asp) rs1135402871
NM_000267.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_000267.3(NF1):c.5429G>A (p.Trp1810Ter) rs1135402872
NM_000267.3(NF1):c.5483_5490del (p.Asp1828fs) rs1135402873
NM_000267.3(NF1):c.5508_5509delinsT (p.Ala1837fs) rs1135402875
NM_000267.3(NF1):c.5508del (p.Ile1836fs) rs1135402874
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5574del (p.Ala1858_Leu1859insTer) rs1135402877
NM_000267.3(NF1):c.5609dup (p.Leu1871fs) rs1135402878
NM_000267.3(NF1):c.5624C>G (p.Ser1875Ter) rs1135402879
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5780dup (p.Tyr1927Ter) rs1135402881
NM_000267.3(NF1):c.5844_5845del (p.Arg1949fs) rs863224835
NM_000267.3(NF1):c.586+2T>C rs1135402791
NM_000267.3(NF1):c.603del (p.Phe201fs) rs1135402792
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_000267.3(NF1):c.6134del (p.Thr2045fs) rs1135402883
NM_000267.3(NF1):c.6148C>T (p.Gln2050Ter) rs1135402884
NM_000267.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_000267.3(NF1):c.6263del (p.Phe2088fs) rs1135402885
NM_000267.3(NF1):c.6361A>C (p.Ser2121Arg) rs1135402886
NM_000267.3(NF1):c.6365-2A>C rs1060500312
NM_000267.3(NF1):c.6389_6393delinsA (p.Leu2130fs) rs1135402887
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6482del (p.Tyr2161fs) rs1135402889
NM_000267.3(NF1):c.6483_6487del (p.Tyr2161_Asp2163delinsTer) rs1135402890
NM_000267.3(NF1):c.6514G>T (p.Glu2172Ter) rs1135402891
NM_000267.3(NF1):c.6537del (p.Ser2180fs) rs1135402892
NM_000267.3(NF1):c.6747del (p.Ser2251fs) rs1135402893
NM_000267.3(NF1):c.6756+2T>C rs1135402894
NM_000267.3(NF1):c.6756G>T (p.Lys2252Asn) rs1060500373
NM_000267.3(NF1):c.6815del (p.Ala2272fs) rs1135402895
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6915T>C (p.Asp2305=) rs1135402896
NM_000267.3(NF1):c.6967del (p.Thr2323fs) rs1135402897
NM_000267.3(NF1):c.6999+2T>C rs1135402898
NM_000267.3(NF1):c.7118T>G (p.Leu2373Arg) rs1135402899
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7197dup (p.Asn2400Ter) rs1135402901
NM_000267.3(NF1):c.7224del (p.Phe2408fs) rs1135402902
NM_000267.3(NF1):c.7258+1G>T rs1135402903
NM_000267.3(NF1):c.7274_7275del (p.Val2424_Ser2425insTer) rs1135402904
NM_000267.3(NF1):c.7320del (p.Leu2441fs) rs1135402905
NM_000267.3(NF1):c.7346dup (p.Asn2449fs) rs1135402906
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7682_7683AG[1] (p.Arg2562fs) rs1135402907
NM_000267.3(NF1):c.7719del (p.Val2575fs) rs1135402908
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.789del (p.Ala264fs) rs1135402795
NM_000267.3(NF1):c.792del (p.Ala265fs) rs1135402796
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000267.3(NF1):c.8097+2T>G rs1135402909
NM_000267.3(NF1):c.8113G>A (p.Asp2705Asn) rs1135402910
NM_000267.3(NF1):c.862del (p.Val288fs) rs1135402797
NM_000267.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_000267.3(NF1):c.888+1G>C rs1135402799
NM_000267.3(NF1):c.889-1G>A rs587781517

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