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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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1442del (p.Pro481fs)
NM_001042492.3(NF1):c.1506dup (p.Asp503fs)
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3566A>G (p.Gln1189Arg) rs752039618
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4724+1G>A rs1555619056
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) rs1567611231
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter)
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) rs1597866846

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