ClinVar Miner

List of variants reported as uncertain significance for Elevated circulating creatine kinase concentration by Institute of Human Genetics, University of Wuerzburg

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser) rs375687199 0.00001
NM_213599.3(ANO5):c.754C>T (p.Leu252Phe) rs1159326828 0.00001
NM_000023.4(SGCA):c.956+14T>C
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.4883T>C (p.Leu1628Pro) rs2147260898
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_013382.7(POMT2):c.2081C>T (p.Ser694Leu)
NM_021971.4(GMPPB):c.1004A>T (p.Glu335Val) rs2080415058

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