ClinVar Miner

List of variants in gene NF1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_000267.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1845+13A>T rs17885739
NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.204+1G>T rs886039548
NM_000267.3(NF1):c.2061A>G (p.Leu687=) rs143671377
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_000267.3(NF1):c.2410-12T>C rs876657932
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_000267.3(NF1):c.2619T>C (p.Arg873=) rs766212733
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_000267.3(NF1):c.3060del (p.Glu1020_Val1021insTer) rs1555614521
NM_000267.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3732T>A (p.Val1244=) rs756653022
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_000267.3(NF1):c.4206A>G (p.Glu1402=) rs17886566
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4299C>T (p.Leu1433=) rs864622298
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4514+12C>T rs17878332
NM_000267.3(NF1):c.4561C>G (p.Leu1521Val) rs1555619011
NM_000267.3(NF1):c.4661+11A>G rs368649260
NM_000267.3(NF1):c.4689C>T (p.Phe1563=) rs876657545
NM_000267.3(NF1):c.4772+3A>G rs1417732851
NM_000267.3(NF1):c.4772G>T (p.Arg1591Met) rs1555619423
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4881C>T (p.Thr1627=) rs759291615
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.5166T>C (p.Ala1722=) rs876657546
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5418C>G (p.Ile1806Met) rs1555533607
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.5546+19T>A rs2285894
NM_000267.3(NF1):c.6084+8C>G rs182709912
NM_000267.3(NF1):c.6098T>A (p.Met2033Lys) rs1555534665
NM_000267.3(NF1):c.6108A>T (p.Ile2036=) rs140733963
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.6271G>A (p.Ala2091Thr) rs749672954
NM_000267.3(NF1):c.6303A>G (p.Thr2101=) rs876657547
NM_000267.3(NF1):c.6312G>A (p.Leu2104=) rs773467465
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.6554C>T (p.Thr2185Ile) rs1555534885
NM_000267.3(NF1):c.6669G>A (p.Leu2223=) rs876657548
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000267.3(NF1):c.6858+10G>A rs767166725
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7127-33TTGT[5] rs149197458
NM_000267.3(NF1):c.7259-17C>T rs17884859
NM_000267.3(NF1):c.7305A>G (p.Lys2435=) rs201287021
NM_000267.3(NF1):c.7376A>G (p.His2459Arg) rs371151718
NM_000267.3(NF1):c.7398A>G (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7925C>T (p.Ser2642Phe) rs786202579
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.8099A>G (p.Gln2700Arg) rs876657933
NM_000267.3(NF1):c.839T>C (p.Ile280Thr) rs1555608976
NM_000267.3(NF1):c.8416G>A (p.Ala2806Thr) rs199878086
NM_000267.3(NF1):c.8436T>C (p.Asn2812=) rs142636150
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.861C>T (p.Asp287=) rs749949219
NM_000267.3(NF1):c.862G>A (p.Val288Met) rs755670651

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