ClinVar Miner

List of variants in gene NF1 reported as pathogenic for Neurofibromatosis, familial spinal

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Gene type:
ClinVar version:
Total variants: 5
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NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) rs137854561
NM_000267.3(NF1):c.7126+3A>C rs267606610
NM_000267.3(NF1):c.8042dupA (p.Tyr2681Terfs) rs267606601

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