ClinVar Miner

List of variants studied for retinal disorder by Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.6743A>G (p.Glu2248Gly) rs2048263970
NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu) rs2048518278

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