ClinVar Miner

List of variants in gene ACO2 reported as likely benign for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001098.3(ACO2):c.1038G>A (p.Lys346=) rs144269243 0.00055
NM_001098.3(ACO2):c.941-19C>T rs375652573 0.00007
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp) rs2006715

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