ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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.3044T>G (p.Leu1015Arg)	rs1131691112
NM_001042492.3(NF1):c.6576_6577dup (p.Glu2193fs)	rs2508754122

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