ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 7
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NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842

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