ClinVar Miner

List of variants studied for corneal disorder by Eye Genetics Research Group, Children's Medical Research Institute

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874

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