ClinVar Miner

List of variants reported as pathogenic for Immunodeficiency 23 by Invitae

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Total variants: 3
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HGVS dbSNP
NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) rs587777414
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577
NM_015599.3(PGM3):c.520C>T (p.Arg174Ter) rs762678772

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