ClinVar Miner

List of variants in gene NF1 reported as pathogenic by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742 0.00001
NM_001042492.3(NF1):c.480-1G>A rs2065902916 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.1277G>A (p.Trp426Ter) rs2143913707
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1527+2T>G rs1064796700
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.2213del (p.Phe738fs)
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3127G>T (p.Glu1043Ter) rs2151432379
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs) rs2151433720
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3455_3456dup (p.Leu1153fs) rs2508233035
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001042492.3(NF1):c.3541del (p.Glu1181fs) rs2508237835
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.4004del (p.Asn1335fs) rs2067448379
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter) rs1131691087
NM_001042492.3(NF1):c.4289dup (p.Pro1431fs) rs2508409237
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4697_4701del (p.Ser1566fs) rs2508430656
NM_001042492.3(NF1):c.4902delinsAA (p.Tyr1634Ter) rs2508694786
NM_001042492.3(NF1):c.5103_5104del (p.Lys1701_Gly1702insTer) rs2508697143
NM_001042492.3(NF1):c.5110A>T (p.Lys1704Ter) rs2151538518
NM_001042492.3(NF1):c.5269-2A>G rs1555533548
NM_001042492.3(NF1):c.5581_5584del (p.Leu1860_Asn1861insTer) rs2508708338
NM_001042492.3(NF1):c.5642dup (p.Cys1882fs)
NM_001042492.3(NF1):c.586+1G>T rs1555607126
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter) rs2069603579
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter) rs876659070
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6413del (p.Gln2138fs)
NM_001042492.3(NF1):c.6585_6586dup (p.Thr2196fs) rs1131691084
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.7063-1G>C rs1131691114
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter) rs2069867490
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs) rs777872719
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7458-1G>A rs1597862012
NM_001042492.3(NF1):c.755dup (p.Leu252fs) rs2544753242
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.8016C>A (p.Cys2672Ter) rs779842988
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.935dup (p.Ser313fs)
NM_001042492.3(NF1):c.984T>A (p.Cys328Ter) rs2143873387

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