ClinVar Miner

List of variants reported as uncertain significance for corneal dystrophy, Fuchs endothelial, 8

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser) rs745458688 0.00002
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
NM_152336.4(AGBL1):c.3323+1G>A rs79072327

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