List of variants in gene F2 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)	rs2134533215
NM_000506.5(F2):c.1094T>A (p.Val365Glu)	rs747234596
NM_000506.5(F2):c.1270G>A (p.Val424Met)	rs1310397756
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)	rs2134537035
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.422+1G>A
NM_000506.5(F2):c.995G>C (p.Gly332Ala)	rs2134532862

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