ClinVar Miner

List of variants reported as pathogenic for MGAT2-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr) rs776531113 0.00001
NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter) rs1310787426 0.00001
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe) rs104894446
NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter) rs104894449
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
NM_002408.4(MGAT2):c.753dup (p.Ala252fs) rs1566504935
NM_002408.4(MGAT2):c.785A>G (p.His262Arg) rs104894447
NM_002408.4(MGAT2):c.799G>C (p.Asp267His) rs1566505013
NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp) rs104894448

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