ClinVar Miner

List of variants studied for MGAT2-congenital disorder of glycosylation by Invitae

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_002408.4(MGAT2):c.261G>T (p.Leu87=) rs2228449 0.01763
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser) rs145684106 0.00200
NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=) rs111486860 0.00162
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) rs140584714 0.00138
NM_002408.4(MGAT2):c.360G>A (p.Leu120=) rs148802016 0.00125
NM_002408.4(MGAT2):c.733G>C (p.Val245Leu) rs117536357 0.00100
NM_002408.4(MGAT2):c.768T>G (p.Leu256=) rs77872234 0.00086
NM_002408.4(MGAT2):c.609T>C (p.Asn203=) rs147375948 0.00051
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.63C>T (p.Gly21=) rs146729850 0.00019
NM_002408.4(MGAT2):c.68T>C (p.Val23Ala) rs371950590 0.00006
NM_002408.4(MGAT2):c.921A>G (p.Val307=) rs763942335 0.00006
NM_002408.4(MGAT2):c.636T>C (p.Asn212=) rs781766964 0.00004
NM_002408.4(MGAT2):c.153C>T (p.Gly51=) rs754480382 0.00002
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.1104A>G (p.Gln368=) rs369433027
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=) rs563513161
NM_002408.4(MGAT2):c.1234A>G (p.Thr412Ala)
NM_002408.4(MGAT2):c.1262C>T (p.Ala421Val)
NM_002408.4(MGAT2):c.1290G>A (p.Gly430=) rs144122741
NM_002408.4(MGAT2):c.163G>A (p.Gly55Arg)
NM_002408.4(MGAT2):c.189C>T (p.Gly63=)
NM_002408.4(MGAT2):c.216G>A (p.Ala72=)
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.525G>A (p.Val175=)
NM_002408.4(MGAT2):c.688A>C (p.Thr230Pro) rs1555327096
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
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.834G>A (p.Leu278=)
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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