List of variants reported as uncertain significance for MGAT2-congenital disorder of glycosylation by Invitae

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_002408.4(MGAT2):c.733G>C (p.Val245Leu)	rs117536357	0.00100
NM_002408.4(MGAT2):c.146G>A (p.Gly49Asp)	rs201411811	0.00026
NM_002408.4(MGAT2):c.232G>A (p.Ala78Thr)	rs138365004	0.00025
NM_002408.4(MGAT2):c.68T>C (p.Val23Ala)	rs371950590	0.00006
NM_002408.4(MGAT2):c.275G>T (p.Arg92Leu)	rs767110185	0.00002
NM_002408.4(MGAT2):c.206A>G (p.Asn69Ser)	rs376612891	0.00001
NM_002408.4(MGAT2):c.544C>G (p.Gln182Glu)	rs746339246	0.00001
NM_002408.4(MGAT2):c.862G>A (p.Val288Ile)	rs1455410429	0.00001
NM_002408.4(MGAT2):c.1016_1020del (p.Cys339fs)
NM_002408.4(MGAT2):c.1234A>G (p.Thr412Ala)
NM_002408.4(MGAT2):c.1262C>T (p.Ala421Val)
NM_002408.4(MGAT2):c.163G>A (p.Gly55Arg)
NM_002408.4(MGAT2):c.250G>T (p.Ala84Ser)	rs527933593
NM_002408.4(MGAT2):c.263C>G (p.Thr88Arg)	rs918814159
NM_002408.4(MGAT2):c.315G>T (p.Arg105Ser)	rs147502375
NM_002408.4(MGAT2):c.349G>C (p.Glu117Gln)
NM_002408.4(MGAT2):c.688A>C (p.Thr230Pro)	rs1555327096
NM_002408.4(MGAT2):c.766C>G (p.Leu256Val)	rs775221699
NM_002408.4(MGAT2):c.781G>T (p.Asp261Tyr)
NM_002408.4(MGAT2):c.805T>C (p.Tyr269His)
NM_002408.4(MGAT2):c.814T>C (p.Phe272Leu)
NM_002408.4(MGAT2):c.842A>C (p.Gln281Pro)
NM_002408.4(MGAT2):c.848G>A (p.Cys283Tyr)
NM_002408.4(MGAT2):c.850C>T (p.Pro284Ser)	rs201673817

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