ClinVar Miner

List of variants studied for eye degenerative disorder by Institute of Human Genetics, Cologne University

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.949G>T (p.Asp317Tyr)
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del) rs2136587632
NM_001854.4(COL11A1):c.2882G>A (p.Gly961Asp)

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