ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 1 by Swedish Neurofibromatosis Center, Swedish Medical Center

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg)	rs2066929440
NM_001042492.3(NF1):c.5837del (p.Leu1946fs)	rs2069601882

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