ClinVar Miner

List of variants studied for Neurofibromatosis, type 1 by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032

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