ClinVar Miner

List of variants studied for congenital entropion by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) rs746506432
NM_152281.3(GORAB):c.287del (p.Gly96fs)

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