ClinVar Miner

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

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Total variants: 119
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HGVS dbSNP gnomAD frequency
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.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 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.1062G>T (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1152del (p.Arg385fs) rs1135402803
NM_001042492.3(NF1):c.1185+1G>A rs864622161
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+1del rs1060500347
NM_001042492.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_001042492.3(NF1):c.1462del (p.Ser488fs) rs1135402810
NM_001042492.3(NF1):c.1469_1472del (p.Lys490fs) rs1135402811
NM_001042492.3(NF1):c.1525dup (p.Cys509fs) rs1135402813
NM_001042492.3(NF1):c.1561del (p.Ser521fs) rs1135402814
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.3(NF1):c.1613del (p.Met538fs) rs1135402817
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.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
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.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.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.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2790T>G (p.Tyr930Ter) rs1135402832
NM_001042492.3(NF1):c.2848del (p.Gln950fs) rs1135402833
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
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.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.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3591dup (p.Glu1198fs) rs1135402844
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.3692_3708del (p.Val1231fs) rs1135402848
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.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.4254del (p.Ile1418fs) rs1135402855
NM_001042492.3(NF1):c.4324del (p.Met1442fs) rs1135402856
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.4460del (p.Pro1487fs) rs1135402861
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4520T>G (p.Leu1507Ter) rs1135402863
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs) rs876658492
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.538_541del (p.Leu180fs) rs1135402789
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.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.5812+5G>A rs1555533889
NM_001042492.3(NF1):c.5843dup (p.Tyr1948Ter) rs1135402881
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.603del (p.Phe201fs) rs1135402792
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
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.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.6642+1G>T rs1060500345
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
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.7030del (p.Thr2344fs) rs1135402897
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
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.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.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7782del (p.Val2596fs) rs1135402908
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.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950

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