ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Gene type:
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Total variants: 6
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NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.3566A>G (p.Gln1189Arg) rs752039618
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139

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