ClinVar Miner

List of variants in gene SOX9 reported as uncertain significance for Camptomelic dysplasia

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.914G>C (p.Gly305Ala) rs143697828 0.00008
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00007
NM_000346.4(SOX9):c.1330G>A (p.Asp444Asn) rs551719325 0.00006
NM_000346.4(SOX9):c.654G>A (p.Met218Ile) rs747366415 0.00005
NM_000346.4(SOX9):c.1285A>G (p.Ser429Gly) rs1221019467 0.00004
NM_000346.4(SOX9):c.904G>A (p.Gly302Ser) rs1414403898 0.00003
NM_000346.4(SOX9):c.1381G>A (p.Gly461Ser) rs749321589 0.00002
NM_000346.4(SOX9):c.1510A>G (p.Thr504Ala) rs149888060 0.00002
NM_000346.4(SOX9):c.947C>T (p.Thr316Met) rs1399089944 0.00002
NM_000346.4(SOX9):c.965G>A (p.Ser322Asn) rs1239456905 0.00002
NM_000346.4(SOX9):c.*1167del rs886053361 0.00001
NM_000346.4(SOX9):c.1096C>T (p.Pro366Ser) rs752349944 0.00001
NM_000346.4(SOX9):c.1109C>T (p.Pro370Leu) rs1908199604 0.00001
NM_000346.4(SOX9):c.1504G>A (p.Val502Ile) rs774375417 0.00001
NM_000346.4(SOX9):c.1525C>T (p.Pro509Ser) rs757337660 0.00001
NM_000346.4(SOX9):c.432-6del rs779263262 0.00001
NM_000346.4(SOX9):c.440A>C (p.Asn147Thr) rs547222137 0.00001
NM_000346.4(SOX9):c.559G>C (p.Ala187Pro) rs771056492 0.00001
NM_000346.4(SOX9):c.676G>A (p.Glu226Lys) rs1197125838 0.00001
NM_000346.4(SOX9):c.737A>C (p.Gln246Pro) rs773882079 0.00001
NM_000346.4(SOX9):c.755T>C (p.Leu252Pro) rs775182990 0.00001
NM_000346.4(SOX9):c.782A>C (p.Glu261Ala) rs1908179907 0.00001
NM_000346.4(SOX9):c.787G>A (p.Gly263Ser) rs752926968 0.00001
NM_000346.4(SOX9):c.797C>T (p.Pro266Leu) rs1908181043 0.00001
NM_000346.4(SOX9):c.989G>C (p.Ser330Thr) rs1243340307 0.00001
NM_000346.4(SOX9):c.*1164del rs886053360
NM_000346.4(SOX9):c.*1183del rs796896836
NM_000346.4(SOX9):c.*1523_*1528del rs886053362
NM_000346.4(SOX9):c.*1988_*1989del rs11448561
NM_000346.4(SOX9):c.*1989dup rs11448561
NM_000346.4(SOX9):c.*744dup rs572140615
NM_000346.4(SOX9):c.*932_*933del rs755085270
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.1025C>T (p.Pro342Leu)
NM_000346.4(SOX9):c.1045C>A (p.Pro349Thr)
NM_000346.4(SOX9):c.1061_1069dup (p.Pro356_Gln357insProAlaPro) rs761585795
NM_000346.4(SOX9):c.1064C>T (p.Ala355Val)
NM_000346.4(SOX9):c.1067C>T (p.Pro356Leu) rs765542809
NM_000346.4(SOX9):c.1072_1083dup (p.Gln361_Pro362insAlaProProGln) rs1567911418
NM_000346.4(SOX9):c.1076C>A (p.Pro359His) rs1908196558
NM_000346.4(SOX9):c.1080_1100del (p.Pro362_Gln368del) rs772713612
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala) rs542727010
NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1]) rs753262382
NM_000346.4(SOX9):c.1110_1130del (p.364AAPPQQP[1]) rs1376979073
NM_000346.4(SOX9):c.1112C>T (p.Ala371Val) rs376470765
NM_000346.4(SOX9):c.1126C>G (p.Gln376Glu) rs2143254472
NM_000346.4(SOX9):c.1148_1156del (p.Thr383_Leu385del) rs1486257792
NM_000346.4(SOX9):c.1196C>T (p.Thr399Met) rs1241721586
NM_000346.4(SOX9):c.1227GCA[5] (p.Gln412_His413insGln) rs1567911609
NM_000346.4(SOX9):c.1307C>G (p.Thr436Ser)
NM_000346.4(SOX9):c.1353C>A (p.Tyr451Ter) rs2143257122
NM_000346.4(SOX9):c.1358G>A (p.Ser453Asn)
NM_000346.4(SOX9):c.1394C>G (p.Thr465Ser) rs2143257582
NM_000346.4(SOX9):c.434T>A (p.Leu145His) rs1331779898
NM_000346.4(SOX9):c.436C>A (p.Leu146Met)
NM_000346.4(SOX9):c.436C>G (p.Leu146Val) rs2143244977
NM_000346.4(SOX9):c.442G>C (p.Glu148Gln) rs886041242
NM_000346.4(SOX9):c.454C>G (p.Arg152Gly) rs1908140265
NM_000346.4(SOX9):c.484C>T (p.Arg162Cys) rs2143245535
NM_000346.4(SOX9):c.502G>T (p.Asp168Tyr) rs2143245759
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000346.4(SOX9):c.592A>G (p.Ile198Val) rs2143246595
NM_000346.4(SOX9):c.593T>A (p.Ile198Asn)
NM_000346.4(SOX9):c.596C>T (p.Ser199Phe) rs762685531
NM_000346.4(SOX9):c.605C>G (p.Ala202Gly) rs2143246698
NM_000346.4(SOX9):c.607A>T (p.Ile203Phe) rs1222573664
NM_000346.4(SOX9):c.608T>A (p.Ile203Asn)
NM_000346.4(SOX9):c.610T>C (p.Phe204Leu)
NM_000346.4(SOX9):c.610T>G (p.Phe204Val) rs754850647
NM_000346.4(SOX9):c.629A>G (p.Asp210Gly) rs2143246916
NM_000346.4(SOX9):c.632C>T (p.Ser211Leu) rs2143246961
NM_000346.4(SOX9):c.640TCC[2] (p.Ser216del) rs1453927920
NM_000346.4(SOX9):c.649G>A (p.Gly217Ser) rs905638075
NM_000346.4(SOX9):c.658G>A (p.Glu220Lys) rs2143247211
NM_000346.4(SOX9):c.684G>T (p.Ser228=)
NM_000346.4(SOX9):c.685+4dup rs2509624834
NM_000346.4(SOX9):c.685+7_685+8delinsTA rs2509624842
NM_000346.4(SOX9):c.686-3C>T rs1908176120
NM_000346.4(SOX9):c.704C>T (p.Pro235Leu) rs984877127
NM_000346.4(SOX9):c.710dup (p.Pro238fs) rs1567911132
NM_000346.4(SOX9):c.740C>T (p.Pro247Leu) rs1460431767
NM_000346.4(SOX9):c.772C>T (p.Pro258Ser) rs1295597096
NM_000346.4(SOX9):c.783G>C (p.Glu261Asp) rs751690259
NM_000346.4(SOX9):c.785G>T (p.Gly262Val) rs1196485591
NM_000346.4(SOX9):c.788G>T (p.Gly263Val) rs756469416
NM_000346.4(SOX9):c.811C>G (p.Arg271Gly) rs771635102
NM_000346.4(SOX9):c.844G>A (p.Val282Ile) rs2143251516
NM_000346.4(SOX9):c.863C>A (p.Thr288Asn)
NM_000346.4(SOX9):c.868G>C (p.Asp290His) rs2509626087
NM_000346.4(SOX9):c.920C>T (p.Pro307Leu) rs202028563
NM_000346.4(SOX9):c.935A>G (p.Gln312Arg) rs1908187199
NM_000346.4(SOX9):c.950G>A (p.Gly317Asp)
NM_000346.4(SOX9):c.971C>T (p.Thr324Ile) rs2143252925

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