ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Mendelics

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Total variants: 31
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HGVS dbSNP
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_000267.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_000267.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_000267.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_000267.3(NF1):c.4171A>G (p.Arg1391Gly) rs1555618515
NM_000267.3(NF1):c.5438C>G (p.Ser1813Ter) rs1597832235
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1854del (p.Asp618fs) rs1597710342
NM_001042492.3(NF1):c.1950del (p.Leu650fs) rs1597710658
NM_001042492.3(NF1):c.1989del (p.Asn664fs) rs1202226733
NM_001042492.3(NF1):c.2244dup (p.Ser749fs) rs1597712758
NM_001042492.3(NF1):c.3045_3046GT[1] (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.333del (p.Lys111fs) rs1597635722
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs) rs1597719504
NM_001042492.3(NF1):c.4381dup (p.Met1461fs) rs1597745689
NM_001042492.3(NF1):c.4431-1G>T rs1597746891
NM_001042492.3(NF1):c.4463del (p.Thr1488fs) rs1597746962
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter) rs1597829913
NM_001042492.3(NF1):c.5269-2A>T rs1555533548
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs) rs1597832021
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs) rs1597843096
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.7062+1G>T rs863224492
NM_001042492.3(NF1):c.7458-2_7459del rs1597862010
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs) rs1597865858
NM_001042492.3(NF1):c.7923del (p.Glu2641fs) rs1597866921
NM_001042492.3(NF1):c.888+1G>T rs1135402799

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