ClinVar Miner

List of variants reported as uncertain significance for Sucrase-isomaltase deficiency by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.123T>C (p.Ile41=) rs146222650 0.00551
NM_001041.4(SI):c.1398+12T>C rs115295826 0.00514
NM_001041.4(SI):c.2923T>C (p.Tyr975His) rs146785675 0.00477
NM_001041.4(SI):c.1716-13G>A rs112259253 0.00456
NM_001041.4(SI):c.1212G>A (p.Ala404=) rs142838612 0.00391
NM_001041.4(SI):c.2678C>T (p.Ala893Val) rs145893756 0.00247
NM_001041.4(SI):c.2395A>G (p.Ile799Val) rs150246328 0.00198
NM_001041.4(SI):c.3234G>A (p.Arg1078=) rs56082035 0.00167
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001 0.00165
NM_001041.4(SI):c.4951G>A (p.Val1651Ile) rs139876383 0.00149
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399 0.00138
NM_001041.4(SI):c.5301G>A (p.Thr1767=) rs150131334 0.00110
NM_001041.4(SI):c.2320A>G (p.Arg774Gly) rs147207752 0.00108
NM_001041.4(SI):c.*121C>T rs530056606 0.00086
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn) rs149783130 0.00081
NM_001041.4(SI):c.825C>T (p.Tyr275=) rs139867598 0.00079
NM_001041.4(SI):c.5403C>T (p.Asp1801=) rs146830505 0.00066
NM_001041.4(SI):c.2892G>A (p.Thr964=) rs145486890 0.00051
NM_001041.4(SI):c.2789A>G (p.Gln930Arg) rs150927256 0.00038
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001041.4(SI):c.1919A>G (p.Glu640Gly) rs142789249 0.00028
NM_001041.4(SI):c.5367T>C (p.Tyr1789=) rs144206255 0.00026
NM_001041.4(SI):c.1544G>T (p.Gly515Val) rs144972103 0.00019
NM_001041.4(SI):c.4239C>T (p.Asp1413=) rs138374817 0.00019
NM_001041.4(SI):c.556T>C (p.Ser186Pro) rs142447888 0.00019
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile) rs371426683 0.00018
NM_001041.4(SI):c.3424-12T>C rs77749967 0.00014
NM_001041.4(SI):c.4950C>T (p.Tyr1650=) rs370336977 0.00014
NM_001041.4(SI):c.639T>C (p.Phe213=) rs368517998 0.00014
NM_001041.4(SI):c.4540+4A>G rs201654919 0.00013
NM_001041.4(SI):c.5108+13T>C rs535082142 0.00013
NM_001041.4(SI):c.2159+12G>A rs376831754 0.00012
NM_001041.4(SI):c.4849G>C (p.Asp1617His) rs202225928 0.00012
NM_001041.4(SI):c.118+10A>G rs200646132 0.00011
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726 0.00011
NM_001041.4(SI):c.4458G>A (p.Thr1486=) rs140287192 0.00011
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818 0.00010
NM_001041.4(SI):c.*217A>C rs577252976 0.00009
NM_001041.4(SI):c.749G>A (p.Arg250His) rs530009542 0.00009
NM_001041.4(SI):c.3331A>G (p.Ile1111Val) rs145913658 0.00008
NM_001041.4(SI):c.801T>C (p.Pro267=) rs752564085 0.00008
NM_001041.4(SI):c.808-14T>A rs762854920 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.5300C>T (p.Thr1767Met) rs199881454 0.00005
NM_001041.4(SI):c.627T>C (p.Gly209=) rs370540330 0.00005
NM_001041.4(SI):c.3760-7A>G rs367956129 0.00004
NM_001041.4(SI):c.4692+12C>T rs199581970 0.00004
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter) rs779803851 0.00004
NM_001041.4(SI):c.1-15C>A rs201424057 0.00003
NM_001041.4(SI):c.1715+8C>A rs373673328 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001041.4(SI):c.2566-11A>G rs747570138 0.00003
NM_001041.4(SI):c.2966G>A (p.Arg989His) rs757155810 0.00003
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys) rs756776020 0.00003
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala) rs202077921 0.00003
NM_001041.4(SI):c.4062+11C>T rs747768310 0.00003
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919 0.00003
NM_001041.4(SI):c.453A>G (p.Gln151=) rs374104171 0.00003
NM_001041.4(SI):c.780T>G (p.Ile260Met) rs758621325 0.00003
NM_001041.4(SI):c.1106A>G (p.Lys369Arg) rs756534501 0.00002
NM_001041.4(SI):c.1311T>C (p.Asn437=) rs886058149 0.00002
NM_001041.4(SI):c.1616T>C (p.Met539Thr) rs749835475 0.00002
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly) rs760887527 0.00002
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn) rs376341511 0.00002
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408 0.00002
NM_001041.4(SI):c.5109-3T>C rs202110241 0.00002
NM_001041.4(SI):c.5320G>A (p.Val1774Ile) rs771335037 0.00002
NM_001041.4(SI):c.636-14C>T rs746808951 0.00002
NM_001041.4(SI):c.1147-6T>A rs146539849 0.00001
NM_001041.4(SI):c.118+11C>T rs767898820 0.00001
NM_001041.4(SI):c.1278+11A>G rs756042084 0.00001
NM_001041.4(SI):c.1796C>T (p.Ala599Val) rs747388124 0.00001
NM_001041.4(SI):c.2510C>T (p.Thr837Ile) rs755263405 0.00001
NM_001041.4(SI):c.2681A>G (p.Glu894Gly) rs756233137 0.00001
NM_001041.4(SI):c.2738T>C (p.Val913Ala) rs1712193715 0.00001
NM_001041.4(SI):c.2985A>G (p.Ile995Met) rs766550125 0.00001
NM_001041.4(SI):c.315G>T (p.Trp105Cys) rs138564183 0.00001
NM_001041.4(SI):c.3309G>A (p.Ser1103=) rs765589827 0.00001
NM_001041.4(SI):c.3423+11A>G rs770815174 0.00001
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr) rs761717351 0.00001
NM_001041.4(SI):c.5304G>A (p.Arg1768=) rs772347173 0.00001
NM_001041.4(SI):c.59T>A (p.Val20Asp) rs771580575 0.00001
NM_001041.4(SI):c.611T>C (p.Ile204Thr) rs377040463 0.00001
NM_001041.4(SI):c.952G>A (p.Gly318Ser) rs749095854 0.00001
NM_001041.4(SI):c.963G>A (p.Leu321=) rs562469691 0.00001
NM_001041.3(SI):c.*473G>A rs1717036361
NM_001041.4(SI):c.*151A>G rs1260115524
NM_001041.4(SI):c.*229T>C rs886058140
NM_001041.4(SI):c.1147-13T>A rs771233611
NM_001041.4(SI):c.1380T>C (p.Ser460=) rs886058148
NM_001041.4(SI):c.1654T>C (p.Trp552Arg) rs1034161542
NM_001041.4(SI):c.16T>C (p.Phe6Leu) rs886058151
NM_001041.4(SI):c.1715+14C>A rs867982218
NM_001041.4(SI):c.1910T>G (p.Phe637Cys) rs886058147
NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs) rs967166732
NM_001041.4(SI):c.2381G>T (p.Gly794Val) rs886058146
NM_001041.4(SI):c.2428C>A (p.Arg810Ser) rs370537003
NM_001041.4(SI):c.2737-23_2737-22dup rs11452619
NM_001041.4(SI):c.2737-8del rs886058145
NM_001041.4(SI):c.2772A>G (p.Gly924=) rs1712190551
NM_001041.4(SI):c.2859A>G (p.Gln953=) rs1444268809
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3540T>C (p.Thr1180=) rs759754319
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu) rs762898979
NM_001041.4(SI):c.3729T>C (p.Tyr1243=) rs779155501
NM_001041.4(SI):c.373+11C>T rs373374968
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys) rs886058144
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu) rs886058143
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu) rs747041492
NM_001041.4(SI):c.4014G>A (p.Leu1338=) rs1718841872
NM_001041.4(SI):c.4077T>C (p.His1359=) rs886058142
NM_001041.4(SI):c.4191G>A (p.Glu1397=) rs886058141
NM_001041.4(SI):c.4209T>C (p.Asn1403=) rs113826825
NM_001041.4(SI):c.4267+9T>C rs1718590792
NM_001041.4(SI):c.4772C>A (p.Pro1591His) rs1717913697
NM_001041.4(SI):c.4793A>T (p.His1598Leu) rs562705407
NM_001041.4(SI):c.483+8T>G rs1714387601
NM_001041.4(SI):c.4841+15T>A rs1041663787
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp) rs145556619
NM_001041.4(SI):c.5279G>T (p.Gly1760Val) rs145556619
NM_001041.4(SI):c.5319T>C (p.His1773=) rs774545616
NM_001041.4(SI):c.635+3A>G rs879204269
NM_001041.4(SI):c.636-14_636-10del rs886058150

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