ClinVar Miner

List of variants in gene CCDC50 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_178335.3(CCDC50):c.546G>C (p.Glu182Asp) rs201472875 0.00006
NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly) rs753554570 0.00004
NM_178335.3(CCDC50):c.226C>T (p.Arg76Cys) rs575240044 0.00001
NM_178335.3(CCDC50):c.923C>G (p.Pro308Arg) rs1064796789 0.00001
NM_178335.3(CCDC50):c.1157T>C (p.Met386Thr) rs775687066
NM_178335.3(CCDC50):c.1221A>C (p.Arg407Ser) rs727504888
NM_178335.3(CCDC50):c.1303A>C (p.Lys435Gln) rs1553844770
NM_178335.3(CCDC50):c.914G>C (p.Arg305Thr) rs896068890

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