ClinVar Miner

List of variants reported as benign for Sucrase-isomaltase deficiency

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.4569G>A (p.Met1523Ile) rs4855271 0.92178
NM_001041.4(SI):c.3888+19C>T rs2290738 0.72200
NM_001041.4(SI):c.1797G>T (p.Ala599=) rs9838509 0.58296
NM_001041.4(SI):c.1437C>T (p.Asn479=) rs9290257 0.57954
NM_001041.4(SI):c.1512+25G>A rs9290256 0.57954
NM_001041.4(SI):c.1278+42_1278+43insAT rs60170840 0.57854
NM_001041.4(SI):c.1146+13A>C rs9290259 0.57783
NM_001041.4(SI):c.691A>G (p.Thr231Ala) rs9283633 0.56659
NM_001041.4(SI):c.43G>T (p.Val15Phe) rs9290264 0.26247
NM_001041.4(SI):c.*68T>C rs73018867 0.25607
NM_001041.4(SI):c.4842-4C>T rs78032315 0.05892
NM_001041.4(SI):c.4779T>C (p.Phe1593=) rs78428100 0.05635
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser) rs9917722 0.05238
NM_001041.4(SI):c.5197+8C>T rs6799858 0.05235
NM_001041.4(SI):c.*426G>A rs111300332 0.04763
NM_001041.4(SI):c.517C>G (p.Pro173Ala) rs146960446 0.01365
NM_001041.4(SI):c.*198G>T rs146143233 0.00908
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.5198-20dup rs566002300
NM_001041.4(SI):c.567G>A (p.Leu189=) rs76463353
NM_001041.4(SI):c.636-22_636-19del rs558953371

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