ClinVar Miner

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

Included ClinVar conditions (1):

Congenital disorder of glycosylation type 1t

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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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