ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 1 by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7971-1G>A rs1417908560
NM_001042492.3(NF1):c.7971-1G>C

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