ClinVar Miner

List of variants reported as benign for campomelic dysplasia

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.*23A>C rs1042667 0.36428
NM_000346.4(SOX9):c.507C>T (p.His169=) rs2229989 0.16350
NM_000346.4(SOX9):c.1113G>A (p.Ala371=) rs929651 0.01816
NM_000346.4(SOX9):c.276G>T (p.Pro92=) rs139490970 0.00312
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00125
NM_000346.4(SOX9):c.1320C>T (p.Tyr440=) rs80338688 0.00095
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678 0.00071
NM_000346.4(SOX9):c.686-8del rs564339518 0.00060
NM_000346.4(SOX9):c.42G>A (p.Gln14=) rs769605571 0.00021
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00019
NM_000346.4(SOX9):c.477G>A (p.Glu159=) rs369677666 0.00010
NM_000346.4(SOX9):c.480G>A (p.Arg160=) rs370267426 0.00007
NM_000346.4(SOX9):c.187G>C (p.Glu63Gln) rs149852681 0.00004
NM_000346.4(SOX9):c.200A>G (p.Asp67Gly) rs769953292 0.00004
NM_000346.4(SOX9):c.920C>G (p.Pro307Arg) rs202028563 0.00003
NM_000346.4(SOX9):c.1169G>C (p.Gly390Ala) rs750284138 0.00002
NM_000346.4(SOX9):c.76A>G (p.Met26Val) rs575451633 0.00002
NM_000346.4(SOX9):c.1178A>G (p.Gln393Arg) rs1016657347 0.00001
NM_000346.4(SOX9):c.657C>T (p.Ser219=) rs777250801 0.00001
NM_000346.4(SOX9):c.916G>T (p.Val306Leu) rs779386878 0.00001
NM_000346.4(SOX9):c.*1989del rs11448561
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln) rs762041707
NM_000346.4(SOX9):c.1060C>T (p.Pro354Ser)
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del) rs761585795
NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys)
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.1419G>A (p.Gln473=)
NM_000346.4(SOX9):c.1435C>T (p.Pro479Ser)
NM_000346.4(SOX9):c.201C>G (p.Asp67Glu)
NM_000346.4(SOX9):c.372G>C (p.Ala124=) rs745780363
NM_000346.4(SOX9):c.431+17del
NM_000346.4(SOX9):c.504C>T (p.Asp168=)
NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)
NM_000346.4(SOX9):c.875A>C (p.Asn292Thr)
NM_000346.4(SOX9):c.902A>G (p.Asn301Ser)

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