ClinVar Miner

List of variants reported as uncertain significance for campomelic dysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00019
NM_000346.4(SOX9):c.1330G>A (p.Asp444Asn) rs551719325 0.00006
NM_000346.4(SOX9):c.914G>C (p.Gly305Ala) rs143697828 0.00006
NM_000346.4(SOX9):c.654G>A (p.Met218Ile) rs747366415 0.00005
NM_000346.4(SOX9):c.1510A>G (p.Thr504Ala) rs149888060 0.00002
NM_000346.4(SOX9):c.559G>C (p.Ala187Pro) rs771056492 0.00002
NM_000346.4(SOX9):c.965G>A (p.Ser322Asn) rs1239456905 0.00002
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.173C>G (p.Pro58Arg) rs770917232 0.00001
NM_000346.4(SOX9):c.59G>C (p.Gly20Ala) rs1276160255 0.00001
NM_000346.4(SOX9):c.737A>C (p.Gln246Pro) rs773882079 0.00001
NM_000346.4(SOX9):c.787G>A (p.Gly263Ser) rs752926968 0.00001
NM_000346.4(SOX9):c.*1164del rs886053360
NM_000346.4(SOX9):c.*1167del rs886053361
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)
NM_000346.4(SOX9):c.1064C>T (p.Ala355Val)
NM_000346.4(SOX9):c.1067C>T (p.Pro356Leu)
NM_000346.4(SOX9):c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)
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.1096C>T (p.Pro366Ser)
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1]) rs753262382
NM_000346.4(SOX9):c.1110_1130del (p.364AAPPQQP[1])
NM_000346.4(SOX9):c.1112C>T (p.Ala371Val)
NM_000346.4(SOX9):c.1126C>G (p.Gln376Glu) rs2143254472
NM_000346.4(SOX9):c.1148_1156del (p.Thr383_Leu385del)
NM_000346.4(SOX9):c.1196C>T (p.Thr399Met)
NM_000346.4(SOX9):c.1227GCA[5] (p.Gln412_His413insGln)
NM_000346.4(SOX9):c.1285A>G (p.Ser429Gly)
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.1381G>A (p.Gly461Ser)
NM_000346.4(SOX9):c.1394C>G (p.Thr465Ser)
NM_000346.4(SOX9):c.140G>A (p.Arg47Gln)
NM_000346.4(SOX9):c.1525C>T (p.Pro509Ser)
NM_000346.4(SOX9):c.15C>G (p.Asp5Glu)
NM_000346.4(SOX9):c.241C>G (p.Leu81Val)
NM_000346.4(SOX9):c.24G>A (p.Met8Ile)
NM_000346.4(SOX9):c.253G>C (p.Asp85His)
NM_000346.4(SOX9):c.268C>T (p.Pro90Ser)
NM_000346.4(SOX9):c.273G>T (p.Met91Ile)
NM_000346.4(SOX9):c.340G>C (p.Val114Leu) rs2143240123
NM_000346.4(SOX9):c.341T>C (p.Val114Ala)
NM_000346.4(SOX9):c.346G>A (p.Ala116Thr)
NM_000346.4(SOX9):c.347C>T (p.Ala116Val) rs2143240212
NM_000346.4(SOX9):c.356C>A (p.Ala119Glu) rs886043537
NM_000346.4(SOX9):c.375C>G (p.Asp125Glu)
NM_000346.4(SOX9):c.432-6del
NM_000346.4(SOX9):c.434T>A (p.Leu145His)
NM_000346.4(SOX9):c.436C>A (p.Leu146Met)
NM_000346.4(SOX9):c.436C>G (p.Leu146Val) rs2143244977
NM_000346.4(SOX9):c.440A>C (p.Asn147Thr)
NM_000346.4(SOX9):c.442G>C (p.Glu148Gln)
NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)
NM_000346.4(SOX9):c.484C>T (p.Arg162Cys)
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.53T>C (p.Leu18Pro)
NM_000346.4(SOX9):c.56C>T (p.Ser19Phe)
NM_000346.4(SOX9):c.592A>G (p.Ile198Val)
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)
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)
NM_000346.4(SOX9):c.629A>G (p.Asp210Gly)
NM_000346.4(SOX9):c.632C>T (p.Ser211Leu)
NM_000346.4(SOX9):c.640TCC[2] (p.Ser216del)
NM_000346.4(SOX9):c.649G>A (p.Gly217Ser)
NM_000346.4(SOX9):c.658G>A (p.Glu220Lys)
NM_000346.4(SOX9):c.676G>A (p.Glu226Lys)
NM_000346.4(SOX9):c.684G>T (p.Ser228=)
NM_000346.4(SOX9):c.685+4dup
NM_000346.4(SOX9):c.685+7_685+8delinsTA
NM_000346.4(SOX9):c.686-3C>T
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)
NM_000346.4(SOX9):c.755T>C (p.Leu252Pro)
NM_000346.4(SOX9):c.772C>T (p.Pro258Ser)
NM_000346.4(SOX9):c.77T>A (p.Met26Lys)
NM_000346.4(SOX9):c.782A>C (p.Glu261Ala)
NM_000346.4(SOX9):c.783G>C (p.Glu261Asp) rs751690259
NM_000346.4(SOX9):c.785G>T (p.Gly262Val)
NM_000346.4(SOX9):c.788G>T (p.Gly263Val)
NM_000346.4(SOX9):c.797C>T (p.Pro266Leu)
NM_000346.4(SOX9):c.811C>G (p.Arg271Gly)
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)
NM_000346.4(SOX9):c.904G>A (p.Gly302Ser)
NM_000346.4(SOX9):c.920C>T (p.Pro307Leu)
NM_000346.4(SOX9):c.935A>G (p.Gln312Arg) rs1908187199
NM_000346.4(SOX9):c.947C>T (p.Thr316Met)
NM_000346.4(SOX9):c.950G>A (p.Gly317Asp)
NM_000346.4(SOX9):c.971C>T (p.Thr324Ile)
NM_000346.4(SOX9):c.989G>C (p.Ser330Thr)

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