List of variants reported as pathogenic for congenital disorder of glycosylation type I by Fulgent Genetics, Fulgent Genetics

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_013339.4(ALG6):c.257+5G>A	rs199682486	0.00065
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00021
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00010
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_013339.4(ALG6):c.998C>T (p.Ala333Val)	rs121908443	0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)	rs762811727	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_019109.5(ALG1):c.1187+1G>A	rs374928784	0.00002
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	rs80338700	0.00001
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	rs398124348	0.00001
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
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
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	rs398122394
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)	rs752922461
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro)	rs121908293

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