ClinVar Miner

List of variants reported as likely pathogenic for Sucrase-isomaltase deficiency by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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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.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)	rs200328403	0.00003

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