ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 7
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HGVS dbSNP
NM_000267.3(NF1):c.204+1G>T rs886039548
NM_000267.3(NF1):c.2970_2972delAAT (p.Met992del) rs267606606
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.6791dupA (p.Tyr2264Terfs) rs876657715
NM_001042492.2(NF1):c.3060delA (p.Val1021Terfs) rs1555614521
NM_001042492.2(NF1):c.3827G>A (p.Arg1276Gln) rs137854556

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