ClinVar Miner

List of variants reported as pathogenic for PGM1-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs)
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)

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