ClinVar Miner

List of variants in gene PDE6B reported as uncertain significance by Broad Institute Rare Disease Group, Broad Institute

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.1107+219G>A
NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys) rs1263635426
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) rs766049601
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487

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