ClinVar Miner

List of variants in gene combination LOC106014249, PAX6 reported as uncertain significance for PAX6-related ocular dysgenesis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209

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