ClinVar Miner

List of variants reported as likely pathogenic for cataract by Molecular Medicine, University of Pavia

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005267.5(GJA8):c.101T>C (p.Ile34Thr)
NM_005360.5(MAF):c.871C>G (p.Gln291Glu)
NM_005360.5(MAF):c.905C>T (p.Ala302Val) rs1481963503
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) rs28931605

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