ClinVar Miner

List of variants in gene PDE6B reported as likely benign by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03551
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=) rs113459274 0.02570
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=) rs61739716 0.01153
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_000283.4(PDE6B):c.2505A>G (p.Val835=) rs61734864 0.00938
NM_000283.4(PDE6B):c.*414C>T rs111404897 0.00925
NM_000283.4(PDE6B):c.873T>C (p.Ser291=) rs142597807 0.00827
NM_000283.4(PDE6B):c.*474C>G rs577140751 0.00180
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000283.4(PDE6B):c.1401+7_1401+8insA rs537010934 0.00074
NM_000283.4(PDE6B):c.2504-1G>C rs201870319 0.00029
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met) rs149359860 0.00016
NM_000283.4(PDE6B):c.2269-11C>T rs370169775 0.00008
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln) rs145756948 0.00007
NM_000283.4(PDE6B):c.59G>A (p.Arg20His) rs781251175 0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile) rs201584824 0.00006
NM_000283.4(PDE6B):c.285C>T (p.Phe95=) rs746211772 0.00003
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=) rs769147926 0.00002
NM_000283.4(PDE6B):c.2352+13C>T rs374527841 0.00002
NM_000283.4(PDE6B):c.*21C>T rs371005251 0.00001
NM_000283.4(PDE6B):c.*79A>G rs753277194 0.00001

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