ClinVar Miner

List of variants studied for Neurofibromatosis, type 1 by Department of Pediatrics, Memorial Sloan Kettering Cancer Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs) rs2151433720
NM_001042492.3(NF1):c.4388del (p.Pro1463fs) rs2151463107
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.4883dup (p.Leu1628fs) rs2151537647
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541

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