ClinVar Miner

List of variants in gene combination GIGYF2, KCNJ13 reported as uncertain significance for Leber congenital amaurosis

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002242.4(KCNJ13):c.*1482_*1484del rs774385692 0.00019
NM_002242.4(KCNJ13):c.*1742dup rs746052279
NM_002242.4(KCNJ13):c.*179CT[1] rs758195599

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