ClinVar Miner

List of variants reported as uncertain significance for Achromatopsia 4 by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) rs34723289 0.00516
NM_001377295.2(GNAT2):c.*50G>C rs116688317 0.00311
NM_001377295.2(GNAT2):c.-53-78G>A rs532113128 0.00275
NM_001377295.2(GNAT2):c.427G>A (p.Ala143Thr) rs149421007 0.00038
NM_001377295.2(GNAT2):c.14C>T (p.Ala5Val) rs199503029 0.00029
NM_001377295.2(GNAT2):c.591-9T>C rs199666763 0.00024
NM_001377295.2(GNAT2):c.928C>T (p.Leu310Phe) rs200883344 0.00020
NM_001377295.2(GNAT2):c.609G>T (p.Gly203=) rs551776784 0.00008
NM_001377295.2(GNAT2):c.246G>A (p.Leu82=) rs192176115 0.00006
NM_001377295.2(GNAT2):c.461+10A>T rs772538094 0.00006
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) rs754414120 0.00002
NM_001377295.2(GNAT2):c.213T>G (p.Ala71=) rs577261001 0.00001
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) rs200316722 0.00001
NM_001377295.2(GNAT2):c.672T>C (p.Cys224=) rs201230566 0.00001
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) rs140788789 0.00001
NM_001377295.2(GNAT2):c.*102C>A rs572222112
NM_001377295.2(GNAT2):c.-53-35C>G rs886045029
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln) rs140250745
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) rs779967692

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