ClinVar Miner

List of variants reported as pathogenic for Sucrase-isomaltase deficiency by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 2

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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

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