List of variants reported as uncertain significance for Sucrase-isomaltase deficiency by Fulgent Genetics, Fulgent Genetics

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		ClinVar version:

Total variants: 64

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HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.2737G>T (p.Val913Phe)	rs200328496	0.00041
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)	rs142789249	0.00028
NM_001041.4(SI):c.322T>G (p.Phe108Val)	rs146006371	0.00026
NM_001041.4(SI):c.2828G>C (p.Cys943Ser)	rs375113759	0.00020
NM_001041.4(SI):c.1285G>A (p.Ala429Thr)	rs556583179	0.00019
NM_001041.4(SI):c.1544G>T (p.Gly515Val)	rs144972103	0.00019
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)	rs375443860	0.00018
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)	rs371426683	0.00018
NM_001041.4(SI):c.2150T>A (p.Val717Asp)	rs188320908	0.00014
NM_001041.4(SI):c.325G>A (p.Val109Ile)	rs149498200	0.00014
NM_001041.4(SI):c.4849G>C (p.Asp1617His)	rs202225928	0.00012
NM_001041.4(SI):c.2599T>C (p.Tyr867His)	rs140230726	0.00011
NM_001041.4(SI):c.5C>A (p.Ala2Glu)	rs201612742	0.00011
NM_001041.4(SI):c.1378A>T (p.Ser460Cys)	rs141450837	0.00010
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)	rs138927818	0.00010
NM_001041.4(SI):c.1694G>C (p.Ser565Thr)	rs149898910	0.00009
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)	rs145913658	0.00008
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)	rs149414344	0.00006
NM_001041.4(SI):c.748C>T (p.Arg250Cys)	rs200745562	0.00006
NM_001041.4(SI):c.1420T>C (p.Tyr474His)	rs771986263	0.00005
NM_001041.4(SI):c.2074C>T (p.Arg692Cys)	rs371618948	0.00005
NM_001041.4(SI):c.2380G>A (p.Gly794Ser)	rs138778317	0.00005
NM_001041.4(SI):c.2894G>A (p.Gly965Asp)	rs144419320	0.00005
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)	rs199881454	0.00005
NM_001041.4(SI):c.1943G>A (p.Arg648Lys)	rs375458342	0.00004
NM_001041.4(SI):c.2891C>T (p.Thr964Met)	rs369115304	0.00004
NM_001041.4(SI):c.3955G>A (p.Val1319Ile)	rs376972966	0.00004
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)	rs376437234	0.00004
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys)	rs767701775	0.00004
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr)	rs369134336	0.00004
NM_001041.4(SI):c.695G>A (p.Arg232His)	rs747345955	0.00004
NM_001041.4(SI):c.1762C>T (p.Arg588Cys)	rs201583834	0.00003
NM_001041.4(SI):c.2566-11A>G	rs747570138	0.00003
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)	rs768100667	0.00003
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)	rs779805310	0.00003
NM_001041.4(SI):c.417T>G (p.Phe139Leu)	rs758407768	0.00003
NM_001041.4(SI):c.5266A>G (p.Ile1756Val)	rs535971512	0.00003
NM_001041.4(SI):c.1303C>T (p.Arg435Cys)	rs370325800	0.00002
NM_001041.4(SI):c.178T>C (p.Ser60Pro)	rs755487744	0.00002
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)	rs574552408	0.00002
NM_001041.4(SI):c.653G>T (p.Gly218Val)	rs775308282	0.00002
NM_001041.4(SI):c.788G>A (p.Arg263Gln)	rs143135955	0.00002
NM_001041.4(SI):c.1057C>A (p.Leu353Ile)	rs539049352	0.00001
NM_001041.4(SI):c.1217A>C (p.Asn406Thr)	rs777261367	0.00001
NM_001041.4(SI):c.1526T>C (p.Val509Ala)	rs551453053	0.00001
NM_001041.4(SI):c.2338A>G (p.Met780Val)	rs770724135	0.00001
NM_001041.4(SI):c.2455G>A (p.Ala819Thr)	rs542969966	0.00001
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)	rs756776020	0.00001
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)	rs1307836828	0.00001
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile)	rs140725570	0.00001
NM_001041.4(SI):c.3423+3A>G	rs766943944	0.00001
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys)	rs966189337	0.00001
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)	rs753519683	0.00001
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)	rs796683088	0.00001
NM_001041.4(SI):c.580G>T (p.Val194Phe)	rs371768147	0.00001
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)	rs1446666305
NM_001041.4(SI):c.1567A>C (p.Asn523His)	rs780055379
NM_001041.4(SI):c.3064G>A (p.Val1022Met)	rs201018248
NM_001041.4(SI):c.371T>C (p.Ile124Thr)	rs889224862
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)	rs1559990351
NM_001041.4(SI):c.4842-3G>A	rs112107483
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)	rs150702232
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)	rs760505676
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)	rs145556619

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