ClinVar Miner

List of variants reported as pathogenic for age related macular degeneration 2 by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389

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