List of variants in gene PGM1 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)	rs777164338	0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)	rs587777404	0.00003
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)	rs745993071	0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)	rs397515423	0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln)	rs1453920894	0.00001
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro)	rs587777401	0.00001
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala)	rs121918371	0.00001
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)	rs770066171	0.00001
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)	rs377295149	0.00001
NC_000001.10:g.(?_64119983)_(64125346_?)del
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)	rs1170935238
NM_002633.3(PGM1):c.1091del (p.Asn364fs)	rs1557437034
NM_002633.3(PGM1):c.1144+3A>T	rs1393459956
NM_002633.3(PGM1):c.1145-1G>C	rs587776801
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)	rs763428801
NM_002633.3(PGM1):c.1422dup (p.Glu475Ter)
NM_002633.3(PGM1):c.1474del (p.Leu492fs)	rs1376645472
NM_002633.3(PGM1):c.1500del (p.Ile500fs)	rs2523941865
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)	rs398122912
NM_002633.3(PGM1):c.423del (p.Ala142fs)	rs2100982320
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)	rs1649153115
NM_002633.3(PGM1):c.661del (p.Arg221fs)	rs587777405
NM_002633.3(PGM1):c.689dup (p.Pro231fs)	rs2523892264
NM_002633.3(PGM1):c.696_699del (p.Pro231_Tyr232insTer)	rs2523892321
NM_002633.3(PGM1):c.929_930del (p.Val310fs)	rs2100988650
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)	rs2523895823
PGM1, ARG521TER

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