ClinVar Miner

List of variants reported as pathogenic for retinal disorder by Clinical Genetics and Genomics, Karolinska University Hospital

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) rs1178528306

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