ClinVar Miner

List of variants in gene ARL6 reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg) rs2037381055 0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 0.00001
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys) rs2037751886
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn) rs2037752645

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