ClinVar Miner

List of variants in gene NF1 reported as pathogenic for Neurofibromatosis, type 1; Tibial pseudoarthrosis

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Total variants: 37
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HGVS dbSNP
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.3113+1G>A rs267606599
NM_000267.3(NF1):c.3712G>T (p.Glu1238Ter) rs1060500346
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.654+1G>A rs1060500245
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.7096_7101del rs864622639
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_001042492.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter) rs1597682751
NM_001042492.3(NF1):c.1992dup (p.Ser665fs) rs1597710824
NM_001042492.3(NF1):c.2019C>A (p.Cys673Ter) rs146624509
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter) rs1597635615
NM_001042492.3(NF1):c.2947del (p.His982_Leu983insTer) rs1597716380
NM_001042492.3(NF1):c.3187_3188insTA (p.Cys1063fs) rs1597717684
NM_001042492.3(NF1):c.4756_4772del (p.Ala1586fs) rs1597753208
NM_001042492.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5046delinsGGTTAC (p.Cys1682fs) rs1597829913
NM_001042492.3(NF1):c.5130del (p.Cys1711fs) rs1597830078
NM_001042492.3(NF1):c.5199dup (p.Glu1734fs) rs1597830232
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter) rs1597832043
NM_001042492.3(NF1):c.5697T>A (p.Cys1899Ter) rs1597834760
NM_001042492.3(NF1):c.5980_5983del (p.Ala1994fs) rs1597840291
NM_001042492.3(NF1):c.6399_6400GT[1] (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.643del (p.Ser215fs) rs1597658192
NM_001042492.3(NF1):c.6819+2_6826del rs1597845213
NM_001042492.3(NF1):c.6854dup (p.Tyr2285Ter) rs876657715
NM_001042492.3(NF1):c.731-2A>C rs1555608924
NM_001042492.3(NF1):c.786_787insTT (p.Lys263fs) rs1597659879
NM_001042492.3(NF1):c.7898del (p.Glu2633fs) rs1597866854

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