ClinVar Miner

List of variants studied for congenital entropion by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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_006329.4(FBLN5):c.479G>A (p.Trp160Ter)
NM_006907.4(PYCR1):c.291_294dup (p.Val99fs)
NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs)

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