ClinVar Miner

List of variants in gene PGM1 reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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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.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1145-1G>C rs587776801
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs)
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro) rs587777401
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala) rs121918371
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) rs398122912
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)

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