ClinVar Miner

List of variants reported as likely pathogenic for congenital sucrase-isomaltase deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (1):

Sucrase-isomaltase deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001041.4(SI):c.1730T>G (p.Val577Gly)	rs121912615	0.00131
NM_001041.4(SI):c.2159+2T>G	rs1553775177

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