ClinVar Miner

List of variants in gene NF1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 5
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NM_000267.3(NF1):c.5243G>A (p.Arg1748Gln) rs1555533559
NM_001042492.2(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_001042492.2(NF1):c.3254T>G (p.Leu1085Arg) rs1555614849
NM_001042492.2(NF1):c.3974G>T (p.Arg1325Met) rs863224447
NM_001042492.2(NF1):c.5549T>C (p.Val1850Ala) rs1555533637

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