ClinVar Miner

List of variants in gene LOC108021846, SOX9 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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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.174C>T (p.Pro58=)
NM_000346.4(SOX9):c.197_226del (p.Glu66_Glu75del)
NM_000346.4(SOX9):c.201C>G (p.Asp67Glu)
NM_000346.4(SOX9):c.218T>C (p.Ile73Thr) rs2143238589
NM_000346.4(SOX9):c.241C>G (p.Leu81Val)
NM_000346.4(SOX9):c.24G>A (p.Met8Ile)
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.271_272del (p.Met91fs)
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)
NM_000346.4(SOX9):c.81C>G (p.Ser27=)
NM_000346.4(SOX9):c.9C>G (p.Leu3=)

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