ClinVar Miner

List of variants in gene LOC108021846, SOX9 studied for campomelic dysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.276G>T (p.Pro92=) rs139490970 0.00312
NM_000346.4(SOX9):c.42G>A (p.Gln14=) rs769605571 0.00021
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.287A>G (p.Asn96Ser) rs148407362 0.00003
NM_000346.4(SOX9):c.48G>A (p.Lys16=) rs1412757423 0.00002
NM_000346.4(SOX9):c.76A>G (p.Met26Val) rs575451633 0.00002
NM_000346.4(SOX9):c.15C>T (p.Asp5=) rs768210143 0.00001
NM_000346.4(SOX9):c.173C>G (p.Pro58Arg) rs770917232 0.00001
NM_000346.4(SOX9):c.18C>T (p.Pro6=) rs780889240 0.00001
NM_000346.4(SOX9):c.59G>C (p.Gly20Ala) rs1276160255 0.00001
NM_000346.4(SOX9):c.108G>T (p.Pro36=)
NM_000346.4(SOX9):c.111G>T (p.Ser37=) rs1327415352
NM_000346.4(SOX9):c.124dup (p.Asp42fs) rs2143237315
NM_000346.4(SOX9):c.138G>A (p.Thr46=)
NM_000346.4(SOX9):c.140G>A (p.Arg47Gln)
NM_000346.4(SOX9):c.141G>A (p.Arg47=)
NM_000346.4(SOX9):c.144C>G (p.Pro48=)
NM_000346.4(SOX9):c.156G>C (p.Thr52=) rs747786977
NM_000346.4(SOX9):c.15C>G (p.Asp5Glu)
NM_000346.4(SOX9):c.16C>T (p.Pro6Ser)
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.241C>G (p.Leu81Val)
NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter) rs1555629022
NM_000346.4(SOX9):c.253G>C (p.Asp85His)
NM_000346.4(SOX9):c.255_256del (p.Asp85fs) rs2143239047
NM_000346.4(SOX9):c.268C>T (p.Pro90Ser)
NM_000346.4(SOX9):c.273G>T (p.Met91Ile)
NM_000346.4(SOX9):c.276G>A (p.Pro92=) rs139490970
NM_000346.4(SOX9):c.281_310del (p.Arg94_Pro103del) rs1908098789
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.336C>T (p.Phe112=)
NM_000346.4(SOX9):c.337A>G (p.Met113Val) rs2143240089
NM_000346.4(SOX9):c.337A>T (p.Met113Leu)
NM_000346.4(SOX9):c.339G>A (p.Met113Ile) rs2143240113
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.349C>T (p.Gln117Ter) rs1555629037
NM_000346.4(SOX9):c.356C>A (p.Ala119Glu) rs886043537
NM_000346.4(SOX9):c.359G>T (p.Arg120Leu) rs2143240394
NM_000346.4(SOX9):c.369dup (p.Ala124fs) rs2143240579
NM_000346.4(SOX9):c.372G>C (p.Ala124=) rs745780363
NM_000346.4(SOX9):c.375C>G (p.Asp125Glu)
NM_000346.4(SOX9):c.419G>A (p.Gly140Asp) rs2143241065
NM_000346.4(SOX9):c.431+12C>T
NM_000346.4(SOX9):c.431+17del
NM_000346.4(SOX9):c.431+8C>T
NM_000346.4(SOX9):c.431+9C>G
NM_000346.4(SOX9):c.431+9C>T
NM_000346.4(SOX9):c.53T>C (p.Leu18Pro)
NM_000346.4(SOX9):c.55T>A (p.Ser19Thr) rs1908086972
NM_000346.4(SOX9):c.56C>T (p.Ser19Phe)
NM_000346.4(SOX9):c.77T>A (p.Met26Lys)
NM_000346.4(SOX9):c.80C>A (p.Ser27Tyr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.