ClinVar Miner

List of variants in gene NF1 reported as benign by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.57005
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00365
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.4269A>G (p.Glu1423=) rs17886566 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00197
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00123
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00084
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00057
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00029
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00027
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00017
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=) rs151293900 0.00016
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00011
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00009
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00007
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505 0.00002
NM_001042492.3(NF1):c.1186-13del rs763903212
NM_001042492.3(NF1):c.1186-13dup rs763903212
NM_001042492.3(NF1):c.1186-6C>T rs200684215
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
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.6148-28del rs398100472
NM_001042492.3(NF1):c.7190-33TTGT[5] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7971-8del rs564545012

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