ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1415dup (p.Thr473fs) rs2544829159
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer) rs2508125114
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.4557del (p.Gln1520fs) rs2508421944
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.5157del (p.Ile1719fs) rs1555533382
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.6794del (p.Lys2265fs) rs1597845155

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