ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Institute of Human Genetics, Medical University Innsbruck

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1642-10A>G rs1597706578
NM_001042492.3(NF1):c.1722-11T>G rs2066961306
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2326-6T>G rs1597713670
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.289-6T>G rs757074803
NM_001042492.3(NF1):c.3315-3C>G rs752318318
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6705-7_6705-6insAAAA rs2069724056
NM_001042492.3(NF1):c.7063-4A>G rs749805168

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