ClinVar Miner

List of variants studied for Tolchin-Le Caignec syndrome

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.(?_16318654)_(16341011_16476389)del
NM_001367873.1(SOX6):c.1037T>C (p.Phe346Ser)
NM_001367873.1(SOX6):c.1102C>T (p.Gln368Ter)
NM_001367873.1(SOX6):c.1252G>A (p.Asp418Asn)
NM_001367873.1(SOX6):c.1519C>T (p.Arg507Ter)
NM_001367873.1(SOX6):c.160G>A (p.Glu54Lys)
NM_001367873.1(SOX6):c.1874T>C (p.Met625Thr) rs1853958124
NM_001367873.1(SOX6):c.1975T>A (p.Trp659Arg) rs1853841874
NM_001367873.1(SOX6):c.2026del (p.Arg676fs)
NM_001367873.1(SOX6):c.2077C>T (p.Arg693Ter) rs2119818223
NM_001367873.1(SOX6):c.242C>G (p.Ser81Ter) rs1855823129
NM_001367873.1(SOX6):c.277C>T (p.Arg93Ter) rs376018780
NM_001367873.1(SOX6):c.445+33803del
NM_001367873.1(SOX6):c.458T>C (p.Met153Thr)
NM_001367873.1(SOX6):c.50A>G (p.Glu17Gly)
NM_001367873.1(SOX6):c.535G>A (p.Gly179Ser)
NM_001367873.1(SOX6):c.67G>T (p.Asp23Tyr)
NM_001367873.1(SOX6):c.718C>T (p.Gln240Ter) rs1554941241
NM_001367873.1(SOX6):c.970C>T (p.Gln324Ter) rs2133975843

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