ClinVar Miner

List of variants in gene SOX4 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003107.3(SOX4):c.1002C>G (p.Pro334=)
NM_003107.3(SOX4):c.1011C>T (p.Pro337=)
NM_003107.3(SOX4):c.1012A>G (p.Ser338Gly)
NM_003107.3(SOX4):c.1026C>A (p.Arg342=)
NM_003107.3(SOX4):c.1036G>A (p.Ala346Thr)
NM_003107.3(SOX4):c.1170C>T (p.Ser390=)
NM_003107.3(SOX4):c.1213C>T (p.Leu405=)
NM_003107.3(SOX4):c.1272G>C (p.Ser424=)
NM_003107.3(SOX4):c.1287C>T (p.Asp429=)
NM_003107.3(SOX4):c.1293C>T (p.Asp431=)
NM_003107.3(SOX4):c.15C>G (p.Thr5=)
NM_003107.3(SOX4):c.396G>A (p.Lys132=)
NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla) rs542004893
NM_003107.3(SOX4):c.501G>C (p.Gly167=)
NM_003107.3(SOX4):c.531G>A (p.Ala177=)
NM_003107.3(SOX4):c.531G>C (p.Ala177=)
NM_003107.3(SOX4):c.579G>C (p.Pro193=)
NM_003107.3(SOX4):c.582G>T (p.Ala194=)
NM_003107.3(SOX4):c.666C>A (p.Gly222=) rs879489337
NM_003107.3(SOX4):c.666CGG[6] (p.Gly227_Lys228insGly)
NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del) rs1171444727
NM_003107.3(SOX4):c.710T>C (p.Phe237Ser)
NM_003107.3(SOX4):c.730G>T (p.Ala244Ser)
NM_003107.3(SOX4):c.744G>C (p.Leu248=)
NM_003107.3(SOX4):c.871AAG[1] (p.Lys292del)

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