ClinVar Miner

List of variants in gene GCNT2 reported as uncertain significance for Adult i blood group with or without congenital cataract

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_145649.5(GCNT2):c.*2322dup rs886060912 0.00004
NM_001491.3(GCNT2):c.49ATT[1] (p.Ile18del) rs781422504
NM_145649.5(GCNT2):c.*1007TTCA[2] rs754179557
NM_145649.5(GCNT2):c.*1664TATT[2] rs886060909
NM_145649.5(GCNT2):c.925+25926_925+25931delinsCCCCACTTTTT rs886060900

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