List of variants in gene TTI2 reported as pathogenic for Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001102401.4(TTI2):c.1100C>T (p.Pro367Leu)	rs398122366	0.00010
NM_001102401.4(TTI2):c.539T>C (p.Leu180Pro)	rs765235179	0.00002
NM_001102401.4(TTI2):c.1075C>T (p.Arg359Cys)	rs770858092	0.00001
NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)	rs200045967	0.00001
NM_001102401.4(TTI2):c.575T>C (p.Leu192Pro)	rs1180962073

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