ClinVar Miner

List of variants in gene DOP1A, PGM3 studied for Immunodeficiency 23

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Total variants: 7
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HGVS dbSNP
NM_015599.3(PGM3):c.1464C>T (p.Tyr488=) rs34873318
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
NM_015599.3(PGM3):c.1510G>A (p.Val504Ile)
NM_015599.3(PGM3):c.1592C>T (p.Ala531Val)
NM_015599.3(PGM3):c.1610G>T (p.Arg537Met)

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