List of variants in gene TTI2 reported as uncertain significance 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001102401.4(TTI2):c.1001G>A (p.Arg334Gln)	rs143370889	0.00025
NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly)	rs138419634	0.00010
NM_001102401.4(TTI2):c.1064G>A (p.Arg355His)	rs201287148	0.00007
NM_001102401.4(TTI2):c.695C>T (p.Thr232Ile)	rs369757546	0.00006
NM_001102401.4(TTI2):c.160G>T (p.Asp54Tyr)	rs577201836	0.00003
NM_001102401.4(TTI2):c.356T>C (p.Leu119Pro)	rs779111618	0.00001
NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter)	rs746387467
NM_001102401.4(TTI2):c.127_131delinsAA (p.Arg43_Arg44delinsLys)	rs1809584812
NM_001102401.4(TTI2):c.55G>C (p.Glu19Gln)	rs1291406319

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