ClinVar Miner

List of variants reported for Immunodeficiency 23 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015599.3(PGM3):c.-2-209C>A rs1438440008 0.00001
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_015599.3(PGM3):c.566A>G (p.Lys189Arg) rs1251637218

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