ClinVar Miner

List of variants in gene SOX11 reported as uncertain significance for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003108.4(SOX11):c.538G>A (p.Ala180Thr) rs1297634063 0.00002
NM_003108.4(SOX11):c.701A>G (p.Glu234Gly) rs751660162 0.00002
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala) rs771639613 0.00001
NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe) rs991368727
NM_003108.4(SOX11):c.1147G>T (p.Gly383Cys) rs1665683367
NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr) rs2103277224
NM_003108.4(SOX11):c.1153G>T (p.Ala385Ser)
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.142C>G (p.His48Asp) rs2103276319
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.294C>G (p.Phe98Leu)
NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3]) rs2103276417
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_003108.4(SOX11):c.400G>T (p.Ala134Ser)
NM_003108.4(SOX11):c.425C>G (p.Ala142Gly)
NM_003108.4(SOX11):c.527C>A (p.Ala176Glu)
NM_003108.4(SOX11):c.724G>C (p.Glu242Gln)
NM_003108.4(SOX11):c.787C>A (p.Pro263Thr) rs745675837

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