ClinVar Miner

List of variants in gene PAX6 reported as pathogenic for corneal dystrophy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.959-2A>T rs587776571

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