ClinVar Miner

List of variants studied for Neurofibromatosis, type 1 by DASA

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1908del (p.Ser637fs) rs2144026600
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950

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