ClinVar Miner

List of variants in gene AHI1 reported as pathogenic for Leber congenital amaurosis

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013	0.00001
NM_001134831.2(AHI1):c.1912+5G>T	rs1554347012

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