ClinVar Miner

List of variants in gene PDE6B reported as uncertain significance by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000283.4(PDE6B):c.1804C>T (p.Arg602Cys) rs754298498 0.00004
NM_000283.4(PDE6B):c.2274G>C (p.Met758Ile) rs140857147 0.00004
NM_000283.4(PDE6B):c.2281C>T (p.Arg761Trp) rs756653121 0.00004
NM_000283.4(PDE6B):c.704G>A (p.Arg235His) rs757918699 0.00003
NM_000283.4(PDE6B):c.1366G>A (p.Val456Met) rs376028657 0.00002
NM_000283.4(PDE6B):c.2206G>A (p.Val736Met) rs779518964 0.00002
NM_000283.4(PDE6B):c.1401+4_1401+48del rs768567008
NM_000283.4(PDE6B):c.1807G>A (p.Gly603Ser)
NM_000283.4(PDE6B):c.1969A>G (p.Ile657Val)
NM_000283.4(PDE6B):c.2473GAG[3] (p.Glu828del) rs777568669
NM_000283.4(PDE6B):c.468G>C (p.Glu156Asp)
NM_000283.4(PDE6B):c.551A>G (p.Lys184Arg)
NM_000283.4(PDE6B):c.803T>C (p.Leu268Pro)
NM_000283.4(PDE6B):c.928-9_940dup rs539992414

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