ClinVar Miner

List of variants in gene NF1 reported by Laboratory of Urology, Hospital Clinic de Barcelona

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1274G>A (p.Trp425Ter) rs1597688734
NM_001042492.3(NF1):c.1682G>A (p.Trp561Ter) rs2144004331
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter) rs2508240305
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter) rs2143672195
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) rs766727694
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.6211C>T (p.Gln2071Ter) rs1135402884
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter) rs1555534677
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter) rs863224493

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