List of variants in gene CTU2 reported as pathogenic by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001012759.3(CTU2):c.188T>C (p.Leu63Pro)	rs147948789	0.00061
NM_001012759.3(CTU2):c.1206dup (p.Ala403fs)	rs1597434884
NM_001012759.3(CTU2):c.1514_1517del (p.Ile505fs)	rs779980669
NM_001012759.3(CTU2):c.282+5G>A	rs1351549465

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