ClinVar Miner

List of variants in gene NF1 studied for Neurofibroma

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_001042492.3(NF1):c.2388del (p.Ala797fs) rs1555614011
NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter) rs1597715477
NM_001042492.3(NF1):c.6858C>T (p.Asn2286=) rs2151559216
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.7448_7457del (p.Pro2483fs) rs1597859854
NM_001042492.3(NF1):c.7458-1G>C rs1597862012

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