List of variants in gene F8 reported as pathogenic by GeneDx

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His)	rs111033614	0.00002
NM_000132.4(F8):c.1569G>T (p.Leu523=)	rs782733685	0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	rs137852428	0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	rs137852436	0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)	rs28935203	0.00001
NM_000132.4(F8):c.4473C>A (p.Tyr1491Ter)	rs1557278411
NM_000132.4(F8):c.4757G>A (p.Trp1586Ter)
NM_000132.4(F8):c.5399G>A (p.Arg1800His)	rs137852442
NM_000132.4(F8):c.5587-93C>T	rs1264918703
NM_000132.4(F8):c.6103G>A (p.Val2035Met)	rs1057521074
NM_000132.4(F8):c.902G>A (p.Arg301His)	rs137852403

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