List of variants reported as pathogenic for Sucrase-isomaltase deficiency

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Total variants: 16

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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.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)	rs200451408	0.00010
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)	rs121912611	0.00002
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter)	rs1000661675	0.00001
NM_001041.4(SI):c.1022T>C (p.Leu341Pro)	rs267607049
NM_001041.4(SI):c.1859T>C (p.Leu620Pro)	rs121912613
NM_001041.4(SI):c.2025dup (p.Gly676fs)	rs2108219188
NM_001041.4(SI):c.2242C>T (p.Gln748Ter)	rs2108217077
NM_001041.4(SI):c.273_274del (p.Gly92fs)
NM_001041.4(SI):c.350A>G (p.Gln117Arg)	rs121912612
NM_001041.4(SI):c.3586_3587del (p.Met1196fs)	rs780535026
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)	rs121912614
NM_001041.4(SI):c.793del (p.Gln265fs)	rs1714177959
NM_001041.4(SI):c.853G>T (p.Glu285Ter)	rs758259365

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