ClinVar Miner

List of variants in gene TTI2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001102401.4(TTI2):c.1030C>T (p.Arg344Trp) rs137898652 0.00020
NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly) rs138419634 0.00010
NM_001102401.4(TTI2):c.1135C>T (p.Arg379Trp) rs140977711 0.00009
NM_001102401.4(TTI2):c.1064G>A (p.Arg355His) rs201287148 0.00007
NM_001102401.4(TTI2):c.713G>A (p.Arg238Gln) rs770897969 0.00007
NM_001102401.4(TTI2):c.290A>C (p.Lys97Thr) rs752200108 0.00006
NM_001102401.4(TTI2):c.695C>T (p.Thr232Ile) rs369757546 0.00006
NM_001102401.4(TTI2):c.709A>G (p.Thr237Ala) rs750649409 0.00004
NM_001102401.4(TTI2):c.914A>G (p.His305Arg) rs772772988 0.00004
NM_001102401.4(TTI2):c.1087G>A (p.Ala363Thr) rs962681131 0.00003
NM_001102401.4(TTI2):c.215G>T (p.Gly72Val) rs774970585 0.00003
NM_001102401.4(TTI2):c.446C>T (p.Pro149Leu) rs550248694 0.00003
NM_001102401.4(TTI2):c.955T>C (p.Phe319Leu) rs775309150 0.00002
NM_001102401.4(TTI2):c.1166T>C (p.Ile389Thr) rs772232196 0.00001
NM_001102401.4(TTI2):c.119C>T (p.Pro40Leu) rs750784998 0.00001
NM_001102401.4(TTI2):c.569G>T (p.Gly190Val) rs774668351 0.00001
NM_001102401.4(TTI2):c.647+1G>A rs1269425390 0.00001
NM_001102401.4(TTI2):c.908C>G (p.Pro303Arg) rs573205991 0.00001
NM_001102401.4(TTI2):c.985A>G (p.Lys329Glu) rs770130398 0.00001
NM_001102401.4(TTI2):c.1076G>A (p.Arg359His) rs769052273
NM_001102401.4(TTI2):c.1190G>A (p.Gly397Glu) rs150984360
NM_001102401.4(TTI2):c.1190G>T (p.Gly397Val)
NM_001102401.4(TTI2):c.221G>T (p.Arg74Leu)
NM_001102401.4(TTI2):c.252G>C (p.Gln84His)
NM_001102401.4(TTI2):c.28C>T (p.Pro10Ser)
NM_001102401.4(TTI2):c.514G>A (p.Ala172Thr)
NM_001102401.4(TTI2):c.556G>C (p.Gly186Arg)
NM_001102401.4(TTI2):c.610T>C (p.Ser204Pro)
NM_001102401.4(TTI2):c.668C>T (p.Pro223Leu) rs745525486
NM_001102401.4(TTI2):c.687C>G (p.Phe229Leu) rs1038077253
NM_001102401.4(TTI2):c.700C>A (p.Gln234Lys)
NM_001102401.4(TTI2):c.758T>C (p.Leu253Ser) rs1809452090
NM_001102401.4(TTI2):c.764T>C (p.Ile255Thr) rs1809451768
NM_001102401.4(TTI2):c.977T>C (p.Leu326Pro)

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