ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University

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Total variants: 6
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HGVS dbSNP
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_000267.3(NF1):c.7000-2A>G rs1597851255
NM_000267.3(NF1):c.7385_7394del (p.Pro2462fs) rs1597859854
NM_000267.3(NF1):c.7395-1G>C rs1597862012
NM_001042492.3(NF1):c.2388del (p.Ala797fs) rs1555614011

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