ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Laboratori Clínic ICS Lleida, Hospital Universitari Arnau de Vilanova

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.2041C>T (p.Arg681Ter)	rs768638173	0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001

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