ClinVar Miner

List of variants reported as pathogenic for campomelic dysplasia

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 17q24.3(chr17:69144877-70295109)x1
NC_000017.10:g.(?_68171181)_(70120528_?)del
NC_000017.11:g.72122720_72122736del
NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter) rs1339655148
NM_000346.4(SOX9):c.1069C>T (p.Gln357Ter)
NM_000346.4(SOX9):c.1103dup (p.Gln369fs) rs1598176785
NM_000346.4(SOX9):c.1116_1117del (p.Pro374fs) rs2143254357
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.124dup (p.Asp42fs) rs2143237315
NM_000346.4(SOX9):c.1255del (p.Ala419fs)
NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter) rs80338688
NM_000346.4(SOX9):c.1320_1321insCACCA (p.Asp441fs)
NM_000346.4(SOX9):c.1372C>T (p.Gln458Ter) rs1555629443
NM_000346.4(SOX9):c.1437dup (p.Ile480fs)
NM_000346.4(SOX9):c.1498C>T (p.Gln500Ter)
NM_000346.4(SOX9):c.197_226del (p.Glu66_Glu75del)
NM_000346.4(SOX9):c.218T>C (p.Ile73Thr) rs2143238589
NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter) rs1555629022
NM_000346.4(SOX9):c.255_256del (p.Asp85fs) rs2143239047
NM_000346.4(SOX9):c.271_272del (p.Met91fs)
NM_000346.4(SOX9):c.313G>T (p.Val105Phe) rs2143239754
NM_000346.4(SOX9):c.326T>C (p.Met109Thr)
NM_000346.4(SOX9):c.334_335del (p.Phe112fs)
NM_000346.4(SOX9):c.337A>G (p.Met113Val) rs2143240089
NM_000346.4(SOX9):c.349C>T (p.Gln117Ter) rs1555629037
NM_000346.4(SOX9):c.359G>T (p.Arg120Leu) rs2143240394
NM_000346.4(SOX9):c.432-2A>C
NM_000346.4(SOX9):c.432-2A>T rs1908139210
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
NM_000346.4(SOX9):c.462C>G (p.Phe154Leu) rs137853129
NM_000346.4(SOX9):c.472G>A (p.Ala158Thr) rs137853130
NM_000346.4(SOX9):c.473C>T (p.Ala158Val) rs2143245422
NM_000346.4(SOX9):c.491A>C (p.Gln164Pro) rs1567910689
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
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.509C>G (p.Pro170Arg)
NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe)
NM_000346.4(SOX9):c.517A>G (p.Lys173Glu) rs104894647
NM_000346.4(SOX9):c.517A>T (p.Lys173Ter) rs104894647
NM_000346.4(SOX9):c.527C>T (p.Pro176Leu) rs1555629170
NM_000346.4(SOX9):c.583C>T (p.Gln195Ter) rs1480235826
NM_000346.4(SOX9):c.600dup (p.Asn201fs) rs2143246628
NM_000346.4(SOX9):c.683C>A (p.Ser228Ter)
NM_000346.4(SOX9):c.685+1G>A
NM_000346.4(SOX9):c.685+2T>C
NM_000346.4(SOX9):c.686-2A>G rs2143250007
NM_000346.4(SOX9):c.736dup (p.Gln246fs) rs587776541
NM_000346.4(SOX9):c.760C>T (p.Arg254Ter)
NM_000346.4(SOX9):c.788dup (p.Arg264fs) rs1274036689
NM_000346.4(SOX9):c.944dup (p.Tyr315Ter)
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) rs1324081394
t(11;17)(p15.4;q24.3)

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