ClinVar Miner

List of variants reported as likely benign for Sucrase-isomaltase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_001041.4(SI):c.4841+9A>G rs114438312 0.01984
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993 0.01823
NM_001041.4(SI):c.483+4C>T rs13086543 0.01717
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182 0.00560
NM_001041.4(SI):c.4268-14T>C rs201151548 0.00041
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-9dup rs747324303

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