ClinVar Miner

List of variants reported as uncertain significance for Coffin-Siris syndrome 10

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003107.3(SOX4):c.1308dup (p.Glu437fs) rs1763138195
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.193G>A (p.Ala65Thr) rs2113557065
NM_003107.3(SOX4):c.322_323insA (p.Phe108fs) rs1763101563
NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)
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.965delinsAGGG (p.Leu322delinsGlnGly)

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