ClinVar Miner

List of variants reported as likely benign for PAX6-related ocular dysgenesis by Rare Disease Group, Clinical Genetics, Karolinska Institutet

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro) rs201284617 0.00236
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr) rs753221661 0.00006

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