ClinVar Miner

List of variants in gene NF1 reported by Human Genetics Bochum, Ruhr University Bochum

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001042492.3(NF1):c.2326-6_2338del rs2508170309
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs) rs2067134697
NM_001042492.3(NF1):c.5609+1G>A rs1131691117
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.730+2T>C rs200962248
NM_001042492.3(NF1):c.731-1G>C rs1555608928

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