ClinVar Miner

List of variants in gene ARL6 reported as uncertain significance for Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55

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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_001278293.3(ARL6):c.529C>T (p.Leu177Phe)	rs750627875	0.00003
NM_001278293.3(ARL6):c.143T>A (p.Leu48His)	rs895572972

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