ClinVar Miner

List of variants in gene PGM3 reported as likely benign for PGM3-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_015599.3(PGM3):c.-2-166C>T
NM_015599.3(PGM3):c.1047T>G (p.Thr349=)
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln) rs149679266
NM_015599.3(PGM3):c.1243-15_1243-4del
NM_015599.3(PGM3):c.39C>T (p.His13=)
NM_015599.3(PGM3):c.405A>G (p.Lys135=)
NM_015599.3(PGM3):c.439C>T (p.Leu147=)
NM_015599.3(PGM3):c.458-7A>G
NM_015599.3(PGM3):c.787+7C>T rs376979392
NM_015599.3(PGM3):c.787+8G>A

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