List of variants in gene COA8 reported as pathogenic for developmental defect during embryogenesis

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001370595.2(COA8):c.314T>C (p.Phe105Ser)	rs587777786	0.00001
NM_001370595.2(COA8):c.-10dup	rs559856575
NM_001370595.2(COA8):c.124-1G>A	rs587777785
NM_001370595.2(COA8):c.170_173dup (p.Pro59fs)
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter)	rs587777784
NM_001370595.2(COA8):c.328GAA[1] (p.Glu111del)	rs587777787

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