ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Clinical Genetics Laboratory, Skane University Hospital Lund

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1721+6T>C rs2144005065
NM_001042492.3(NF1):c.2900T>C (p.Ile967Thr) rs1289091384
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His) rs864622372
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu) rs1060500309

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