ClinVar Miner

List of variants in gene TELO2 studied for You-Hoover-Fong syndrome

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Total variants: 22
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HGVS dbSNP
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271
NM_016111.4(TELO2):c.2226+38A>G
NM_016111.4(TELO2):c.2227-39C>T
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497
NM_016111.4(TELO2):c.2407+77A>T
NM_016111.4(TELO2):c.2415T>C (p.Ala805=)
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)
NM_016111.4(TELO2):c.682+115C>T
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775
NM_016111.4(TELO2):c.933+11del
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro)

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