ClinVar Miner

List of variants in gene SOX11 reported as uncertain significance for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003108.4(SOX11):c.1036A>G (p.Ser346Gly)
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[1] (p.347SGSS[1]) rs751221446
NM_003108.4(SOX11):c.1125C>G (p.Ser375Arg)
NM_003108.4(SOX11):c.1130G>A (p.Ser377Asn)
NM_003108.4(SOX11):c.239C>G (p.Ser80Cys) rs1553327809
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_003108.4(SOX11):c.36C>A (p.Ser12Arg)
NM_003108.4(SOX11):c.422G>A (p.Ser141Asn)
NM_003108.4(SOX11):c.439G>A (p.Gly147Ser)
NM_003108.4(SOX11):c.484G>A (p.Gly162Ser)
NM_003108.4(SOX11):c.497A>G (p.Lys166Arg)
NM_003108.4(SOX11):c.520G>A (p.Ala174Thr)
NM_003108.4(SOX11):c.53C>G (p.Ala18Gly)
NM_003108.4(SOX11):c.554C>A (p.Ala185Glu)
NM_003108.4(SOX11):c.623C>T (p.Ser208Leu)
NM_003108.4(SOX11):c.673G>A (p.Asp225Asn)
NM_003108.4(SOX11):c.758A>C (p.Gln253Pro)
NM_003108.4(SOX11):c.787C>T (p.Pro263Ser)
NM_003108.4(SOX11):c.860C>T (p.Ser287Phe)
NM_003108.4(SOX11):c.929G>T (p.Arg310Leu)
NM_003108.4(SOX11):c.95T>G (p.Val32Gly)

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