ClinVar Miner

List of variants studied for Sucrase-isomaltase deficiency by OMIM

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Total variants: 8
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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.3293A>C (p.Gln1098Pro) rs121912611 0.00002
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.350A>G (p.Gln117Arg) rs121912612
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr) rs121912614

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