ClinVar Miner

List of variants in gene SI reported as likely benign for Sucrase-isomaltase deficiency

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Gene type:
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Total variants: 61
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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.692C>G (p.Thr231Ser) rs79468450 0.01059
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182 0.00560
NM_001041.4(SI):c.4275A>G (p.Thr1425=) rs150151075 0.00243
NM_001041.4(SI):c.1218C>T (p.Asn406=) rs151296973 0.00152
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_001041.4(SI):c.876C>T (p.Phe292=) rs139642816 0.00070
NM_001041.4(SI):c.4541-18T>G rs111418304 0.00064
NM_001041.4(SI):c.3466C>T (p.Leu1156=) rs144285578 0.00056
NM_001041.4(SI):c.484-8C>G rs201820421 0.00056
NM_001041.4(SI):c.2343T>C (p.Tyr781=) rs539868642 0.00048
NM_001041.4(SI):c.2721T>C (p.Tyr907=) rs140829463 0.00047
NM_001041.4(SI):c.3634-14A>T rs199634091 0.00046
NM_001041.4(SI):c.1278+8T>G rs368886500 0.00045
NM_001041.4(SI):c.885T>C (p.Phe295=) rs141754766 0.00044
NM_001041.4(SI):c.4268-14T>C rs201151548 0.00041
NM_001041.4(SI):c.4268-12G>C rs200234624 0.00033
NM_001041.4(SI):c.2301+20T>G rs576773147 0.00024
NM_001041.4(SI):c.1587G>A (p.Pro529=) rs531422962 0.00021
NM_001041.4(SI):c.3732C>T (p.Asp1244=) rs200449490 0.00019
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys) rs187532711 0.00016
NM_001041.4(SI):c.5108+16A>G rs149803140 0.00015
NM_001041.4(SI):c.5109-15A>C rs371915462 0.00014
NM_001041.4(SI):c.4062+18T>C rs367787760 0.00010
NM_001041.4(SI):c.1686T>C (p.Tyr562=) rs763063946 0.00009
NM_001041.4(SI):c.4000-18A>G rs764830211 0.00009
NM_001041.4(SI):c.5049A>G (p.Leu1683=) rs199658617 0.00007
NM_001041.4(SI):c.5198-7T>C rs200924086 0.00006
NM_001041.4(SI):c.4000-15T>A rs201336234 0.00005
NM_001041.4(SI):c.4500C>T (p.Asp1500=) rs553547580 0.00005
NM_001041.4(SI):c.807+8A>G rs759240554 0.00005
NM_001041.4(SI):c.1887+8A>C rs372410648 0.00004
NM_001041.4(SI):c.2159+11C>T rs761959886 0.00004
NM_001041.4(SI):c.1995C>T (p.Asp665=) rs757380218 0.00003
NM_001041.4(SI):c.375A>G (p.Gly125=) rs960922254 0.00003
NM_001041.4(SI):c.3888+12G>A rs766861562 0.00002
NM_001041.4(SI):c.969T>C (p.Phe323=) rs780057549 0.00002
NM_001041.4(SI):c.186A>G (p.Lys62=) rs368169891 0.00001
NM_001041.4(SI):c.2862G>A (p.Lys954=) rs377552984 0.00001
NM_001041.4(SI):c.3663T>C (p.Tyr1221=) rs767992819 0.00001
NM_001041.4(SI):c.4008A>G (p.Pro1336=) rs747858019 0.00001
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.119-11dup rs533057264
NM_001041.4(SI):c.1506T>G (p.Leu502=) rs113511967
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2361A>C (p.Ile787=) rs116791931
NM_001041.4(SI):c.2737-11del rs11452619
NM_001041.4(SI):c.2737-12_2737-11del rs11452619
NM_001041.4(SI):c.2737-17_2737-11del rs11452619
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-9dup rs747324303
NM_001041.4(SI):c.3423+10A>G rs200899300
NM_001041.4(SI):c.3634-5del rs750773954
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.374-11dup rs11313475
NM_001041.4(SI):c.4999G>A (p.Val1667Ile) rs142018224
NM_001041.4(SI):c.5385G>A (p.Ser1795=) rs759867192

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