ClinVar Miner

List of variants in gene NF1 reported by Blueprint Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val) rs559910904 0.00001
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg) rs1597629884
NM_001042492.3(NF1):c.3061G>C (p.Val1021Leu) rs1597716939
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.5516del (p.Ile1839fs) rs1597832304
NM_001042492.3(NF1):c.61-7486G>T rs1597617010
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter) rs753054046

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