ClinVar Miner

List of variants in gene SOX11 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003108.4(SOX11):c.709C>G (p.Leu237Val) rs140772793 0.00056
NM_003108.4(SOX11):c.306G>A (p.Ala102=) rs760507252 0.00001
NM_003108.4(SOX11):c.951C>T (p.Asn317=) rs750390370 0.00001
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003108.4(SOX11):c.225C>T (p.His75=) rs1304574596
NM_003108.4(SOX11):c.456_467del (p.Gly153_Gly156del) rs774530705
NM_003108.4(SOX11):c.510C>A (p.Leu170=) rs1042190394

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