List of variants in gene PGM1 reported as pathogenic for PGM1-CDG

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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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