ClinVar Miner

List of variants in gene NF1 reported by Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
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.3867C>T (p.Phe1289=) rs138186428 0.00088
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.2033C>T (p.Pro678Leu) rs17881753 0.00057
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00027
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00018
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=) rs151293900 0.00016
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
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.1599C>G (p.Val533=) rs369458366 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00011
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00008
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00007
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.4767G>A (p.Thr1589=) rs376659579 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142 0.00003
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00003
NM_001042492.3(NF1):c.6696A>C (p.Leu2232=) rs1265616273 0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=) rs368691517 0.00003
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586 0.00002
NM_001042492.3(NF1):c.3871-4G>C rs558421445 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948 0.00001
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr) rs761559887 0.00001
NM_001042492.3(NF1):c.1974C>T (p.Leu658=) rs751318331 0.00001
NM_001042492.3(NF1):c.2010A>G (p.Ala670=) rs786202440 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met) rs876658776 0.00001
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=) rs754023358 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu) rs766727694 0.00001
NM_001042492.3(NF1):c.8161-7A>G rs767623039 0.00001
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu) rs2067016517
NM_001042492.3(NF1):c.2338dup (p.Thr780fs) rs1567848129
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val) rs1555614212
NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met) rs2151431575
NM_001042492.3(NF1):c.3049C>G (p.Gln1017Glu)
NM_001042492.3(NF1):c.3193A>C (p.Thr1065Pro) rs2151432538
NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg) rs1310048288
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=) rs755137259
NM_001042492.3(NF1):c.7341A>G (p.Glu2447=) rs878853915
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919

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