List of variants reported as likely pathogenic for Sucrase-isomaltase deficiency

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Total variants: 18

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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.4099A>G (p.Arg1367Gly)	rs143388292	0.00034
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)	rs142090504	0.00014
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)	rs200972419	0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)	rs200328403	0.00003
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
NM_001041.4(SI):c.2159+2T>G	rs1553775177
NM_001041.4(SI):c.2426+1G>A
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)	rs1221816681
NM_001041.4(SI):c.2737-1G>C	rs1294620045
NM_001041.4(SI):c.2865C>A (p.Cys955Ter)	rs2108202378
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)	rs776569472
NM_001041.4(SI):c.570T>A (p.Tyr190Ter)
NM_001041.4(SI):c.635+2T>C	rs1185991890
NM_001041.4(SI):c.853G>T (p.Glu285Ter)	rs758259365

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