ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_001042492.3(NF1):c.1008_1009delinsAA (p.Trp336_Glu337delinsTer) rs2143873811
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1345_1346insGA (p.Lys449fs) rs2143914781
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1413del (p.Lys471_Val472insTer) rs746149047
NM_001042492.3(NF1):c.1601del (p.Pro534fs) rs2143986751
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter) rs775670722
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1809_1810del (p.Leu604fs) rs2144016775
NM_001042492.3(NF1):c.2366del (p.Lys789fs)
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_001042492.3(NF1):c.3351_3355del (p.Cys1117_Glu1119delinsTer) rs2151434514
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5409del (p.Ile1803fs) rs2151541264
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807

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.