ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667 0.00012
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=) rs757536610 0.00006
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.181A>G (p.Ile61Val) rs754295034 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala) rs145794301 0.00004
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993 0.00002
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His) rs763413441 0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys) rs762169098 0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln) rs375468032 0.00002
NM_001042492.3(NF1):c.1392+7T>C rs773017698 0.00001
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548 0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr) rs761559887 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr) rs778033578 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln) rs762709897 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu) rs753529924 0.00001
NM_001042492.3(NF1):c.5610-7C>T rs553657123 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6819+6T>C rs1407700643 0.00001
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro) rs767458044 0.00001
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln) rs1597866487 0.00001
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg) rs587781502 0.00001
NM_001042492.3(NF1):c.8378-4C>T rs587782700 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NC_000017.10:g.(29687722_29701030)_(29704696_?)dup
NM_001042492.3(NF1):c.*11CTTT[1]
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser) rs370020114
NM_001042492.3(NF1):c.1400C>A (p.Thr467Lys) rs1567841729
NM_001042492.3(NF1):c.1528-9dup rs776722942
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro) rs587778549
NM_001042492.3(NF1):c.1969T>A (p.Ser657Thr) rs1471484159
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu) rs2066993661
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro) rs762709897
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001042492.3(NF1):c.2850+17T>A
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val) rs876660431
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile) rs2067188951
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe) rs2151438597
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_001042492.3(NF1):c.4430+14del rs774927748
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly) rs1567865042
NM_001042492.3(NF1):c.4790G>T (p.Gly1597Val) rs2067766230
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr) rs1567611556
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys) rs2143707725
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp) rs1135402871
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe) rs2069385474
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile) rs878853907
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.655-5T>C rs377264487
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=)
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys) rs1555534961
NM_001042492.3(NF1):c.6819+5C>A rs876659499
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.3(NF1):c.7190-6T>C rs1597858313
NM_001042492.3(NF1):c.731-8del rs1438618408
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile)
NM_001042492.3(NF1):c.8378-13T>C rs903336927
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884

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