List of variants in gene PGM1 reported as likely 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: 18

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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.871G>A (p.Gly291Arg)	rs772768778	0.00003
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)	rs775651976	0.00002
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)	rs748019294	0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)	rs745993071	0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln)	rs1453920894	0.00001
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)	rs377295149	0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)	rs1466885233	0.00001
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)	rs1553121290
NM_002633.3(PGM1):c.1144+3A>T	rs1393459956
NM_002633.3(PGM1):c.1281-2A>G	rs1649810314
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)	rs763428801
NM_002633.3(PGM1):c.1464+1G>A
NM_002633.3(PGM1):c.1508G>A (p.Arg503Gln)
NM_002633.3(PGM1):c.1551C>A (p.Tyr517Ter)	rs1557445467
NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)	rs2523892266
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter)	rs1302961946

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