ClinVar Miner

List of variants reported as uncertain significance for MGAT2-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_002408.4(MGAT2):c.-443C>T rs3007037 0.00589
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.733G>C (p.Val245Leu) rs117536357 0.00100
NM_002408.4(MGAT2):c.-143G>C rs547937523 0.00039
NM_002408.4(MGAT2):c.*722T>C rs571740661 0.00026
NM_002408.4(MGAT2):c.232G>A (p.Ala78Thr) rs138365004 0.00025
NM_002408.4(MGAT2):c.-296C>T rs754950478 0.00021
NM_002408.4(MGAT2):c.*825A>G rs780635680 0.00019
NM_002408.4(MGAT2):c.63C>T (p.Gly21=) rs146729850 0.00019
NM_002408.4(MGAT2):c.*372A>T rs757674496 0.00018
NM_002408.4(MGAT2):c.-425C>T rs762760581 0.00016
NM_002408.4(MGAT2):c.*189T>G rs145164655 0.00011
NM_002408.4(MGAT2):c.*310A>G rs886050520 0.00010
NM_002408.4(MGAT2):c.-455C>T rs886050511 0.00010
NM_002408.4(MGAT2):c.48G>C (p.Val16=) rs538166220 0.00007
NM_002408.4(MGAT2):c.*210C>A rs1417886812 0.00004
NM_002408.4(MGAT2):c.66C>T (p.Phe22=) rs758108747 0.00004
NM_002408.3(MGAT2):c.-495C>T rs574423436 0.00003
NM_002408.4(MGAT2):c.*791G>A rs557292347 0.00003
NM_002408.4(MGAT2):c.-161C>G rs886050517 0.00003
NM_002408.4(MGAT2):c.*579C>T rs548966102 0.00001
NM_002408.4(MGAT2):c.*821C>T rs920154273 0.00001
NM_002408.4(MGAT2):c.-125C>G rs1370678519 0.00001
NM_002408.4(MGAT2):c.233C>T (p.Ala78Val) rs749248027 0.00001
NM_002408.4(MGAT2):c.764T>C (p.Ile255Thr) rs147353945 0.00001
NM_002408.4(MGAT2):c.971C>G (p.Thr324Ser) rs78391102 0.00001
NM_002408.3(MGAT2):c.-486C>G rs539954989
NM_002408.3(MGAT2):c.-494C>T rs972383596
NM_002408.4(MGAT2):c.*144C>A rs772684804
NM_002408.4(MGAT2):c.*598T>C rs1882904880
NM_002408.4(MGAT2):c.-110G>C rs1882833559
NM_002408.4(MGAT2):c.-121C>G rs112513155
NM_002408.4(MGAT2):c.-190G>A rs1882830309
NM_002408.4(MGAT2):c.-304C>A rs1838899424
NM_002408.4(MGAT2):c.-338C>T rs886050516
NM_002408.4(MGAT2):c.-350C>G rs886050515
NM_002408.4(MGAT2):c.-360G>T rs886050514
NM_002408.4(MGAT2):c.-429G>A rs886050513
NM_002408.4(MGAT2):c.-446C>G rs886050512
NM_002408.4(MGAT2):c.105G>A (p.Glu35=) rs1882842749
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=) rs563513161
NM_002408.4(MGAT2):c.15C>G (p.Ile5Met) rs1882838721
NM_002408.4(MGAT2):c.302A>T (p.Asp101Val) rs1882852150
NM_002408.4(MGAT2):c.354G>A (p.Leu118=) rs201805816
NM_002408.4(MGAT2):c.590C>A (p.Pro197His) rs1318755521
NM_002408.4(MGAT2):c.866T>A (p.Leu289His) rs1173622190

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