List of variants in gene F2 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000506.5(F2):c.1814_1815del (p.His605fs)	rs776618390	0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys)	rs1227147475	0.00001
NM_000506.5(F2):c.1030AAG[1] (p.Lys345del)	rs767702854
NM_000506.5(F2):c.1826T>C (p.Leu609Pro)	rs1592422740
NM_000506.5(F2):c.941G>A (p.Arg314His)	rs754231232

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