ClinVar Miner

List of variants in gene PDE6B reported by Faculty of Health Sciences, Beirut Arab University

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.992+1G>A rs898144119 0.00002
NM_000283.4(PDE6B):c.1010A>G (p.His337Arg) rs1736178477
NM_000283.4(PDE6B):c.121_125del (p.Pro41fs) rs1734056711
NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg) rs121918583
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739

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