ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001102401.4(TTI2):c.138T>C (p.Asn46=) rs3098657 0.63812
NM_001102401.4(TTI2):c.188A>G (p.Glu63Gly) rs2304748 0.55441
NM_001102401.4(TTI2):c.-99-31C>T rs34226219 0.30214
NM_001102401.4(TTI2):c.1001G>A (p.Arg334Gln) rs143370889 0.00026
NM_001102401.4(TTI2):c.1100C>T (p.Pro367Leu) rs398122366 0.00010
NM_001102401.4(TTI2):c.1064G>A (p.Arg355His) rs201287148 0.00006
NM_001102401.4(TTI2):c.695C>T (p.Thr232Ile) rs369757546 0.00006
NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly) rs138419634 0.00005
NM_001102401.4(TTI2):c.55G>C (p.Glu19Gln) rs1291406319 0.00001
NM_001102401.4(TTI2):c.-100+1G>A
NM_001102401.4(TTI2):c.1075C>T (p.Arg359Cys)
NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter) rs746387467
NM_001102401.4(TTI2):c.1115+2T>C
NM_001102401.4(TTI2):c.127_131delinsAA (p.Arg43_Arg44delinsLys) rs1809584812
NM_001102401.4(TTI2):c.160G>T (p.Asp54Tyr)
NM_001102401.4(TTI2):c.356T>C (p.Leu119Pro)
NM_001102401.4(TTI2):c.539T>C (p.Leu180Pro)
NM_001102401.4(TTI2):c.575T>C (p.Leu192Pro)
NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)

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