List of variants in gene F5 reported as pathogenic by OMIM

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)	rs118203905	0.00021
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)	rs118203906	0.00007
NM_000130.5(F5):c.2862del (p.Ser955fs)	rs765982916	0.00004
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs)	rs773569662	0.00003
NM_000130.5(F5):c.3481C>T (p.Arg1161Ter)	rs118203909	0.00001
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)	rs118203907	0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)	rs118203910	0.00001
NM_000130.5(F5):c.1042_1049del (p.Lys348fs)	rs2101829195
NM_000130.5(F5):c.1160T>C (p.Ile387Thr)	rs118203911
NM_000130.5(F5):c.2401C>T (p.Gln801Ter)	rs118203908
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs)	rs2101818393
NM_000130.5(F5):c.439G>T (p.Glu147Ter)	rs118203912
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs)	rs2101810760

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