ClinVar Miner

List of variants in gene SOX4 studied for Coffin-Siris syndrome

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter) rs2113558441
NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe)
NM_003107.3(SOX4):c.1308dup (p.Glu437fs) rs1763138195
NM_003107.3(SOX4):c.130_133delinsCGCT (p.Gly44_Lys45delinsArgTer)
NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)
NM_003107.3(SOX4):c.1382A>T (p.Asp461Val) rs2113558999
NM_003107.3(SOX4):c.149G>C (p.Ser50Thr) rs749184422
NM_003107.3(SOX4):c.173A>C (p.His58Pro) rs2113557050
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser) rs1582601669
NM_003107.3(SOX4):c.193G>A (p.Ala65Thr) rs2113557065
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) rs1334099693
NM_003107.3(SOX4):c.281G>A (p.Gly94Asp)
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn) rs1582601747
NM_003107.3(SOX4):c.322_323insA (p.Phe108fs) rs1763101563
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro) rs1464282327
NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)
NM_003107.3(SOX4):c.373_378del (p.Asp125_Tyr126del)
NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla) rs542004893
NM_003107.3(SOX4):c.618_626del (p.204AGG[1])
NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del) rs1171444727
NM_003107.3(SOX4):c.746C>A (p.Pro249His) rs1763113909
NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)
NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter) rs1305965061

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