ClinVar Miner

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

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Gene type:
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Total variants: 7
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NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.3060del (p.Glu1020_Val1021insTer) rs1555614521
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.6854dup (p.Tyr2285Ter) rs876657715

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