List of variants reported as pathogenic for congenital sucrase-isomaltase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)	rs200451408	0.00010
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter)	rs1000661675	0.00001
NM_001041.4(SI):c.2025dup (p.Gly676fs)	rs2108219188
NM_001041.4(SI):c.273_274del (p.Gly92fs)
NM_001041.4(SI):c.793del (p.Gln265fs)	rs1714177959

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