ClinVar Miner

List of variants reported as pathogenic for PGM3-CDG by OMIM

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 10
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HGVS dbSNP
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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