ClinVar Miner

List of variants in gene SATB2 reported as pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) rs1574532220
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) rs1357010510
NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs) rs1574566833

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