ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Clinical Genomics Laboratory, Washington University in St. Louis

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1722-1G>T rs1567845818
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.5958dup (p.Gln1987fs) rs2069607664
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273

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