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: 94
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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 0.00013
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.*1A>C rs876658388 0.00005
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.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.6428-3C>T rs374014162 0.00003
NM_001042492.3(NF1):c.7458-7C>T rs758106590 0.00003
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 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.1082G>C (p.Ser361Thr) rs876660103 0.00001
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548 0.00001
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696 0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr) rs761559887 0.00001
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu) rs765060733 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr) rs758325102 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.3749G>A (p.Arg1250Gln) rs199474765 0.00001
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993 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.4507A>C (p.Asn1503His) rs1555618837 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.619G>A (p.Val207Ile) rs752959118 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.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.7897G>A (p.Glu2633Lys) rs750754640 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001042492.3(NF1):c.8423G>C (p.Cys2808Ser) rs148473245 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] rs2508878279
NM_001042492.3(NF1):c.*1delinsTCG rs2508878205
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.1642-7A>T
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1950A>C (p.Leu650Phe) rs1597710650
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.2189A>C (p.Asn730Thr) rs778033578
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro) rs762709897
NM_001042492.3(NF1):c.2516A>T (p.Asn839Ile) rs1567848834
NM_001042492.3(NF1):c.252G>T (p.Leu84Phe) rs1597629835
NM_001042492.3(NF1):c.2681T>G (p.Phe894Cys) rs1282493551
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001042492.3(NF1):c.2850+17T>A rs1410636379
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val) rs876660431
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly) rs2508259488
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.3901C>G (p.Leu1301Val)
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe) rs2151438597
NM_001042492.3(NF1):c.3937G>C (p.Asp1313His) rs2151438636
NM_001042492.3(NF1):c.3975-4G>C rs760207624
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe) rs199474755
NM_001042492.3(NF1):c.4445T>G (p.Ile1482Arg) rs746994734
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.4958G>A (p.Arg1653His) rs763413441
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser) rs756450772
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr) rs1567611556
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu) rs753529924
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys) rs2143707725
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.655-5T>C rs377264487
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=) rs2151557556
NM_001042492.3(NF1):c.6704+4T>C rs1555534930
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys) rs1555534961
NM_001042492.3(NF1):c.6819+5C>A rs876659499
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
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.821T>A (p.Leu274His) rs2066157974
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile) rs2151588241

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