ClinVar Miner

List of variants in gene NF1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
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.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.3867C>T (p.Phe1289=) rs138186428 0.00089
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.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
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.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
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.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=) rs757536610 0.00006
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=) rs773467465 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=) rs375776474 0.00004
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916 0.00003
NM_001042492.3(NF1):c.3315-8T>C rs764783865 0.00003
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.4110+4T>C rs587781700 0.00002
NM_001042492.3(NF1):c.7869+6G>A rs864622318 0.00002
NM_001042492.3(NF1):c.1186-4A>G rs769295150 0.00001
NM_001042492.3(NF1):c.132C>A (p.Ile44=) rs765778199 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr) rs372049168 0.00001
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly) rs769941435 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.3871-4G>C rs558421445 0.00001
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=) rs779104728 0.00001
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=) rs1060503918 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7479A>G (p.Pro2493=) rs144957306 0.00001
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser) rs766496842 0.00001
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=) rs760433938 0.00001
NM_001042492.3(NF1):c.1233A>G (p.Val411=) rs2143886403
NM_001042492.3(NF1):c.2002-4_2002-3del rs786203664
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp) rs2151426135
NM_001042492.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter) rs2067091885
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3975-7T>C rs2151451258
NM_001042492.3(NF1):c.4045G>T (p.Ala1349Ser) rs1555617332
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met) rs1597744525
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4447G>C (p.Ala1483Pro)
NM_001042492.3(NF1):c.4626T>C (p.Leu1542=) rs1555619012
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile) rs1567863650
NM_001042492.3(NF1):c.480-7T>C rs2143706752
NM_001042492.3(NF1):c.4947del (p.Pro1650fs) rs2151537841
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=) rs1281695642
NM_001042492.3(NF1):c.5551_5552delinsTT (p.Pro1851Phe) rs2151541748
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly) rs1597842820
NM_001042492.3(NF1):c.6352C>G (p.Leu2118Val) rs2151554931
NM_001042492.3(NF1):c.6643-10C>T rs1597844527
NM_001042492.3(NF1):c.7063-9C>G rs1555535398
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val) rs2069866148
NM_001042492.3(NF1):c.7414C>T (p.Pro2472Ser) rs2151574519
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser) rs587781791
NM_001042492.3(NF1):c.8303G>T (p.Ser2768Ile) rs2151588087
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter) rs2143786391

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