List of variants reported as pathogenic for PMM2-congenital disorder of glycosylation by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_000303.3(PMM2):c.255+2T>C	rs139716296	0.00007
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000303.3(PMM2):c.24del (p.Cys9fs)	rs768021123	0.00004
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	rs80338701	0.00003
NM_000303.3(PMM2):c.640-9T>G	rs370160676	0.00003
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	rs1555448899	0.00002
NM_000303.3(PMM2):c.255+1G>A	rs1060499598	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	rs80338700	0.00001
NM_000303.3(PMM2):c.190del (p.Tyr64fs)	rs1339004837
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	rs80338708

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