ClinVar Miner

List of variants in gene NF1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001042492.3(NF1):c.*126G>A rs184715593 0.00185
NM_001042492.3(NF1):c.*582T>G rs532984264 0.00169
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001042492.3(NF1):c.*1899A>G rs547663480 0.00100
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.888+664T>G rs139513375 0.00049
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.1062+113A>G rs868553650 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00005
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.5910A>G (p.Arg1970=) rs777021090 0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=) rs368691517 0.00003
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.5745G>T (p.Leu1915=) rs1234091349 0.00001
NM_001042492.3(NF1):c.5769G>A (p.Thr1923=) rs780145472 0.00001
NM_001042492.3(NF1):c.7005C>T (p.Thr2335=) rs2040793 0.00001
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=) rs760433938 0.00001
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=) rs547090599 0.00001
NC_000017.11:g.31379017T>C
NC_000017.11:g.31379024G>A
NM_001042492.3(NF1):c.*3514G>A rs574282086
NM_001042492.3(NF1):c.*585G>T rs372804411
NM_001042492.3(NF1):c.1528-971G>A
NM_001042492.3(NF1):c.1641+7G>C rs1060503887
NM_001042492.3(NF1):c.2328T>G (p.Ala776=) rs1555613978
NM_001042492.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_001042492.3(NF1):c.2544G>C (p.Gly848=) rs17883704
NM_001042492.3(NF1):c.3081T>C (p.Asp1027=) rs1555614532
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_001042492.3(NF1):c.3709-984C>T
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
NM_001042492.3(NF1):c.3974+34_3974+35dup
NM_001042492.3(NF1):c.4062C>T (p.Ser1354=) rs1597735169
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4449A>G (p.Ala1483=) rs1237298231
NM_001042492.3(NF1):c.4647A>G (p.Pro1549=) rs1305841472
NM_001042492.3(NF1):c.4836-11382_4836-11381del
NM_001042492.3(NF1):c.5169A>G (p.Gln1723=) rs864622372
NM_001042492.3(NF1):c.5397C>T (p.Phe1799=) rs878853901
NM_001042492.3(NF1):c.549C>A (p.Ile183=)
NM_001042492.3(NF1):c.5919T>C (p.Ala1973=) rs876659706
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6777G>A (p.Val2259=) rs1281405147
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7599C>T (p.Asn2533=) rs1597862269
NM_001042492.3(NF1):c.7728T>C (p.Asp2576=) rs876658892
NM_001042492.3(NF1):c.8367G>A (p.Gln2789=) rs786201780
NM_001042492.3(NF1):c.8382C>T (p.Ile2794=) rs1060503890
NM_001042492.3(NF1):c.889-948T>C

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