ClinVar Miner

List of variants in gene combination GIGYF2, KCNJ13 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001103146.3(GIGYF2):c.532+5271_532+5273del rs774385692 0.00019
NM_001103146.3(GIGYF2):c.532+5018dup rs746052279
NM_001103146.3(GIGYF2):c.532+6575_532+6576del rs758195599

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