ClinVar Miner

List of variants studied for anophthalmia/microphthalmia-esophageal atresia syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003106.4(SOX2):c.330C>G (p.Tyr110Ter) rs2108522196
NM_003106.4(SOX2):c.389G>A (p.Gly130Glu)
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010

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