ClinVar Miner

List of variants reported as likely pathogenic for Camptomelic dysplasia

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter) rs1598176852
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter) rs1057518216
NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter) rs1341243329
NM_000346.4(SOX9):c.1427T>C (p.Met476Thr) rs1057518669
NM_000346.4(SOX9):c.281_310del (p.Arg94_Pro103del) rs1908098789
NM_000346.4(SOX9):c.337A>T (p.Met113Leu)
NM_000346.4(SOX9):c.339G>A (p.Met113Ile) rs2143240113
NM_000346.4(SOX9):c.369dup (p.Ala124fs) rs2143240579
NM_000346.4(SOX9):c.419G>A (p.Gly140Asp) rs2143241065
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
NM_000346.4(SOX9):c.503A>G (p.Asp168Gly) rs1908142618
NM_000346.4(SOX9):c.507_508delinsTA (p.Pro170Thr)
NM_000346.4(SOX9):c.508C>A (p.Pro170Thr) rs866706988
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) rs866706988
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys) rs1555629158
NM_000346.4(SOX9):c.527C>G (p.Pro176Arg) rs1555629170
NM_000346.4(SOX9):c.529C>T (p.Arg177Trp) rs2143246033
NM_000346.4(SOX9):c.557_560del (p.Gln186fs)
NM_000346.4(SOX9):c.816_817insTCCGTGAC (p.Val273fs)
NM_000346.4(SOX9):c.829G>T (p.Glu277Ter)
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) rs1324081394
t(6;17)(p21.1;q24.3)

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