List of variants reported as likely pathogenic for PGM1-congenital disorder of glycosylation

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Total variants: 7

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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.1543C>T (p.Arg515Trp)	rs775651976	0.00002
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)	rs745993071	0.00001
NM_002633.3(PGM1):c.1281-2A>G	rs1649810314
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)	rs763428801
NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)

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