List of variants studied for Immunodeficiency 23 by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)	rs745508510	0.00001
NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp)	rs587777416
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg)	rs587777565
NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs)	rs587777414
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.248T>C (p.Leu83Ser)	rs267608260
NM_015599.3(PGM3):c.715G>C (p.Asp239His)	rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)	rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs)	rs587777564
NM_015599.3(PGM3):c.891T>G (p.Asp297Glu)	rs587777415

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