ClinVar Miner

List of variants reported as uncertain significance for anophthalmia/microphthalmia-esophageal atresia syndrome by Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003106.4(SOX2):c.58GGC[5] (p.Gly23dup) rs1560264163
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro) rs760688357

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