ClinVar Miner

List of variants in gene NF1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1307C>A (p.Ser436Ter) rs755190083 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_001042492.3(NF1):c.1152dup (p.Arg385fs) rs1135402803
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.1392+2_1392+8del rs2544811514
NM_001042492.3(NF1):c.1404del (p.Phe468fs) rs2143958767
NM_001042492.3(NF1):c.1417_1418insG (p.Thr473fs)
NM_001042492.3(NF1):c.1473T>A (p.Tyr491Ter) rs2544829573
NM_001042492.3(NF1):c.1548del (p.Glu517fs)
NM_001042492.3(NF1):c.1641+2_1641+3del rs2544841054
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1929_1948del (p.Met643fs)
NM_001042492.3(NF1):c.1953_1969del (p.Arg652fs) rs2508142245
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter) rs2067018146
NM_001042492.3(NF1):c.2152del (p.Asp718fs) rs2508157058
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2331_2365del (p.Trp777_Lys789delinsTer) rs2067037428
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser) rs2151429494
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.3309dup (p.Leu1104fs)
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3567del (p.Gly1190fs) rs1060500271
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs) rs2508422023
NM_001042492.3(NF1):c.4567dup (p.Ser1523fs) rs2067665969
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs) rs1555533284
NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer) rs1555533290
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del) rs2069327013
NM_001042492.3(NF1):c.5046_5047insG (p.Asn1683fs) rs2508696487
NM_001042492.3(NF1):c.512del (p.Asn171fs) rs2544718880
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter) rs2069375606
NM_001042492.3(NF1):c.5301del (p.Glu1768fs) rs2508705455
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter) rs1597832235
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5812+267A>G
NM_001042492.3(NF1):c.5813-177A>C rs2069594174
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6819+3A>G rs1555534966
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6932_6933del (p.Leu2311fs) rs2151561476
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7232_7233del (p.Arg2411fs) rs2151572602
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7372A>T (p.Arg2458Ter) rs2151574406
NM_001042492.3(NF1):c.7458-1G>A rs1597862012
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7558A>T (p.Lys2520Ter)
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.976_979dup (p.Leu327fs)
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter) rs2066508538

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