ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
Download table as spreadsheet
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.