ClinVar Miner

List of variants in gene PDE6B reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His) rs777999727 0.00010
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000283.4(PDE6B):c.837del (p.Asp279fs) rs746141070 0.00001
NM_000283.4(PDE6B):c.1041_1042dup (p.Val348fs) rs1560121685
NM_000283.4(PDE6B):c.1107+2dup rs1560122302
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.1923_1971delinsTCTGGGTA (p.Asn643fs) rs1560134806
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp) rs771338607
NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter) rs1212998897

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