ClinVar Miner

List of variants in gene PDE6B reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1412C>T (p.Ala471Val) rs182071364 0.00018
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala) rs761281062 0.00007
NM_000283.4(PDE6B):c.1330C>T (p.Arg444Cys) rs189094454 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000283.4(PDE6B):c.1488CAC[1] (p.Thr498del) rs1553812485
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2226G>C (p.Glu742Asp) rs1477762818
NM_000283.4(PDE6B):c.2362C>T (p.Arg788Cys) rs954562282

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