ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic for See cases

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2121del (p.Met707fs) rs2508156500
NM_001042492.3(NF1):c.2525G>T (p.Gly842Val) rs1597715290
NM_001042492.3(NF1):c.6820-3A>G rs2508762315
NM_001042492.3(NF1):c.7189+2del

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