ClinVar Miner

List of variants in gene PDE6B reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365

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