ClinVar Miner

List of variants in gene NF1 studied for Neurofibromatosis, familial spinal

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.*1164G>A rs140110377
NM_000267.3(NF1):c.*1202A>C rs886052807
NM_000267.3(NF1):c.*125delC rs397754615
NM_000267.3(NF1):c.*1425C>T rs886052808
NM_000267.3(NF1):c.*1446T>C rs886052809
NM_000267.3(NF1):c.*1899A>G rs547663480
NM_000267.3(NF1):c.*1987C>T rs886052810
NM_000267.3(NF1):c.*2071G>A rs886052811
NM_000267.3(NF1):c.*2089G>A rs17881973
NM_000267.3(NF1):c.*2132T>C rs551806545
NM_000267.3(NF1):c.*2201G>A rs7406983
NM_000267.3(NF1):c.*2215_*2219delGTAGT rs201032889
NM_000267.3(NF1):c.*2265C>G rs1800845
NM_000267.3(NF1):c.*2566C>T rs545937364
NM_000267.3(NF1):c.*2638_*2646delGATAATCTAinsTTATG rs886052813
NM_000267.3(NF1):c.*2777C>A rs185015732
NM_000267.3(NF1):c.*2829T>C rs1048317
NM_000267.3(NF1):c.*2884T>A rs886052814
NM_000267.3(NF1):c.*3091A>C rs570154156
NM_000267.3(NF1):c.*3174A>C rs886052815
NM_000267.3(NF1):c.*3248G>A rs527971565
NM_000267.3(NF1):c.*3266G>A rs548117626
NM_000267.3(NF1):c.*3514G>C rs574282086
NM_000267.3(NF1):c.*498T>G rs9900729
NM_000267.3(NF1):c.*506T>A rs886052804
NM_000267.3(NF1):c.*584G>T rs190144445
NM_000267.3(NF1):c.*871A>T rs568276164
NM_000267.3(NF1):c.*871delA rs759306393
NM_000267.3(NF1):c.*873A>T rs3058624
NM_000267.3(NF1):c.*873_*874delAT rs369548314
NM_000267.3(NF1):c.*873_*874dupAT rs369548314
NM_000267.3(NF1):c.*875T>A rs886052806
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_000267.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871
NM_000267.3(NF1):c.1846-8T>A rs886052799
NM_000267.3(NF1):c.205-13T>A rs886052797
NM_000267.3(NF1):c.2794A>G (p.Met932Val) rs886052800
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.4467A>G (p.Leu1489=) rs876660089
NM_000267.3(NF1):c.4661+11A>G rs368649260
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) rs137854561
NM_000267.3(NF1):c.6567G>A (p.Leu2189=) rs886052801
NM_000267.3(NF1):c.6944C>A (p.Ala2315Glu) rs886052802
NM_000267.3(NF1):c.7126+3A>C rs267606610
NM_000267.3(NF1):c.730+16dupA rs373999174
NM_000267.3(NF1):c.7462C>T (p.Pro2488Ser) rs886052803
NM_000267.3(NF1):c.7807-8C>A rs372441422
NM_000267.3(NF1):c.8042dupA (p.Tyr2681Terfs) rs267606601
NM_001042492.2(NF1):c.*4T>C rs201044568
NM_001042492.2(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.2(NF1):c.168C>T (p.Ser56=) rs17881168
NM_001042492.2(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.2(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_001042492.2(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_001042492.2(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_001042492.2(NF1):c.340C>T (p.Leu114=) rs7207410
NM_001042492.2(NF1):c.369C>G (p.Thr123=) rs146691765
NM_001042492.2(NF1):c.4749A>G (p.Glu1583=) rs144091165
NM_001042492.2(NF1):c.4851A>G (p.Gln1617=) rs150309802
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.2(NF1):c.4929G>A (p.Val1643=) rs17880521
NM_001042492.2(NF1):c.6393C>T (p.His2131=) rs17881788
NM_001042492.2(NF1):c.6555G>A (p.Arg2185=) rs786203189
NM_001042492.2(NF1):c.7026G>A (p.Leu2342=) rs371581213
NM_001042492.2(NF1):c.702G>A (p.Leu234=) rs1801052
NM_001042492.2(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.2(NF1):c.7755C>T (p.Ser2585=) rs17881980
NM_001042492.2(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.2(NF1):c.8151G>A (p.Pro2717=) rs2285895
NM_001042492.2(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042492.2(NF1):c.8499T>C (p.Asn2833=) rs142636150

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.