ClinVar Miner

List of variants in gene MGAT2 reported as likely benign for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002408.4(MGAT2):c.*366C>G rs1011373 0.02852
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser) rs145684106 0.00200
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) rs140584714 0.00138
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.63C>T (p.Gly21=) rs146729850 0.00019
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.1104A>G (p.Gln368=) rs369433027
NM_002408.4(MGAT2):c.1290G>A (p.Gly430=) rs144122741
NM_002408.4(MGAT2):c.189C>T (p.Gly63=)
NM_002408.4(MGAT2):c.525G>A (p.Val175=)
NM_002408.4(MGAT2):c.834G>A (p.Leu278=)

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