ClinVar Miner

List of variants in gene combination DOP1A, PGM3 reported as pathogenic for Immunodeficiency 23

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Total variants: 3
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HGVS dbSNP
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577
NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln) rs587777413
NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) rs267608261

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