ClinVar Miner

List of variants in gene NF1 reported as benign for Neurofibromatosis, familial spinal

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_001042492.3(NF1):c.*2829T>C rs1048317 0.65185
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.64686
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.57005
NM_001042492.3(NF1):c.288+41G>A rs2952976 0.56461
NM_001042492.3(NF1):c.1641+39T>C rs2905880 0.52895
NM_001042492.3(NF1):c.1393-32T>C rs2905876 0.52881
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_001042492.3(NF1):c.7458-29G>A rs964288 0.49344
NM_001042492.3(NF1):c.*2265C>G rs1800845 0.48515
NM_001042492.3(NF1):c.*2201G>A rs7406983 0.46089
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_001042492.3(NF1):c.3496+33C>A rs2066736 0.40732
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001042492.3(NF1):c.4431-46G>C rs17881285 0.05624
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02390
NM_001042492.3(NF1):c.*2089G>A rs17881973 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02109
NM_001042492.3(NF1):c.*873A>T rs3058624 0.01881
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01813
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01502
NM_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.00994
NM_001042492.3(NF1):c.4578-39A>G rs8072417 0.00956
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00790
NM_001042492.3(NF1):c.*498T>G rs9900729 0.00778
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00396
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00283
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00237
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00197
NM_001042492.3(NF1):c.*1481A>G rs150702919 0.00160
NM_001042492.3(NF1):c.*29A>G rs139147882 0.00096
NM_001042492.3(NF1):c.*971T>A rs147515257 0.00095
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00084
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00037
NM_001042492.3(NF1):c.*1164G>A rs140110377 0.00034
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.*871A>T rs568276164 0.00028
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001042492.3(NF1):c.*2777C>T rs185015732
NM_001042492.3(NF1):c.*3514G>A rs574282086
NM_001042492.3(NF1):c.*585G>T rs372804411
NM_001042492.3(NF1):c.*859AT[7] rs369548314

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