ClinVar Miner

List of variants in gene SI reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP
NC_000003.12:g.164978889C>T
NM_001041.4(SI):c.*121C>T
NM_001041.4(SI):c.*151A>G
NM_001041.4(SI):c.*217A>C rs577252976
NM_001041.4(SI):c.*229T>C rs886058140
NM_001041.4(SI):c.1-15C>A rs201424057
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399
NM_001041.4(SI):c.1106A>G (p.Lys369Arg) rs756534501
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001
NM_001041.4(SI):c.1147-13T>A
NM_001041.4(SI):c.1147-6T>A
NM_001041.4(SI):c.118+10A>G rs200646132
NM_001041.4(SI):c.118+11C>T
NM_001041.4(SI):c.1212G>A (p.Ala404=) rs142838612
NM_001041.4(SI):c.123T>C (p.Ile41=)
NM_001041.4(SI):c.1278+11A>G
NM_001041.4(SI):c.1311T>C (p.Asn437=) rs886058149
NM_001041.4(SI):c.1380T>C (p.Ser460=) rs886058148
NM_001041.4(SI):c.1398+12T>C rs115295826
NM_001041.4(SI):c.1399-402_1513-1189dup
NM_001041.4(SI):c.1544G>T (p.Gly515Val)
NM_001041.4(SI):c.1616T>C (p.Met539Thr) rs749835475
NM_001041.4(SI):c.1654T>C (p.Trp552Arg)
NM_001041.4(SI):c.16T>C (p.Phe6Leu) rs886058151
NM_001041.4(SI):c.1715+14C>A rs867982218
NM_001041.4(SI):c.1715+8C>A rs373673328
NM_001041.4(SI):c.1716-13G>A rs112259253
NM_001041.4(SI):c.1796C>T (p.Ala599Val) rs747388124
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.1919A>G (p.Glu640Gly)
NM_001041.4(SI):c.2159+12G>A rs376831754
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
NM_001041.4(SI):c.2381G>T (p.Gly794Val) rs886058146
NM_001041.4(SI):c.2395A>G (p.Ile799Val) rs150246328
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419
NM_001041.4(SI):c.2428C>A (p.Arg810Ser)
NM_001041.4(SI):c.2510C>T (p.Thr837Ile)
NM_001041.4(SI):c.2566-11A>G rs747570138
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726
NM_001041.4(SI):c.2678C>T (p.Ala893Val)
NM_001041.4(SI):c.2681A>G (p.Glu894Gly)
NM_001041.4(SI):c.2737-23_2737-22dup rs11452619
NM_001041.4(SI):c.2737-8del rs886058145
NM_001041.4(SI):c.2738T>C (p.Val913Ala)
NM_001041.4(SI):c.2772A>G (p.Gly924=)
NM_001041.4(SI):c.2789A>G (p.Gln930Arg) rs150927256
NM_001041.4(SI):c.2859A>G (p.Gln953=)
NM_001041.4(SI):c.2892G>A (p.Thr964=) rs145486890
NM_001041.4(SI):c.2923T>C (p.Tyr975His) rs146785675
NM_001041.4(SI):c.2966G>A (p.Arg989His)
NM_001041.4(SI):c.2985A>G (p.Ile995Met)
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys) rs756776020
NM_001041.4(SI):c.315G>T (p.Trp105Cys)
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly) rs760887527
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.4(SI):c.3234G>A (p.Arg1078=)
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn) rs376341511
NM_001041.4(SI):c.3309G>A (p.Ser1103=)
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)
NM_001041.4(SI):c.3423+11A>G rs770815174
NM_001041.4(SI):c.3424-12T>C rs77749967
NM_001041.4(SI):c.3540T>C (p.Thr1180=) rs759754319
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)
NM_001041.4(SI):c.3729T>C (p.Tyr1243=)
NM_001041.4(SI):c.373+11C>T
NM_001041.4(SI):c.3760-7A>G rs367956129
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn) rs149783130
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.3914C>T (p.Thr1305Ile)
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu) rs747041492
NM_001041.4(SI):c.4014G>A (p.Leu1338=)
NM_001041.4(SI):c.4062+11C>T rs747768310
NM_001041.4(SI):c.4077T>C (p.His1359=) rs886058142
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292
NM_001041.4(SI):c.4191G>A (p.Glu1397=) rs886058141
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408
NM_001041.4(SI):c.4209T>C (p.Asn1403=) rs113826825
NM_001041.4(SI):c.4239C>T (p.Asp1413=) rs138374817
NM_001041.4(SI):c.4267+9T>C
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919
NM_001041.4(SI):c.4458G>A (p.Thr1486=) rs140287192
NM_001041.4(SI):c.453A>G (p.Gln151=)
NM_001041.4(SI):c.4540+4A>G
NM_001041.4(SI):c.4692+12C>T rs199581970
NM_001041.4(SI):c.4772C>A (p.Pro1591His)
NM_001041.4(SI):c.4793A>T (p.His1598Leu) rs562705407
NM_001041.4(SI):c.483+8T>G
NM_001041.4(SI):c.4841+15T>A
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
NM_001041.4(SI):c.4873T>G (p.Phe1625Val) rs149414344
NM_001041.4(SI):c.4950C>T (p.Tyr1650=)
NM_001041.4(SI):c.4951G>A (p.Val1651Ile) rs139876383
NM_001041.4(SI):c.5108+13T>C rs535082142
NM_001041.4(SI):c.5109-3T>C
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter) rs779803851
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
NM_001041.4(SI):c.5301G>A (p.Thr1767=)
NM_001041.4(SI):c.5304G>A (p.Arg1768=)
NM_001041.4(SI):c.5319T>C (p.His1773=)
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)
NM_001041.4(SI):c.5367T>C (p.Tyr1789=) rs144206255
NM_001041.4(SI):c.5403C>T (p.Asp1801=)
NM_001041.4(SI):c.556T>C (p.Ser186Pro) rs142447888
NM_001041.4(SI):c.59T>A (p.Val20Asp)
NM_001041.4(SI):c.611T>C (p.Ile204Thr)
NM_001041.4(SI):c.627T>C (p.Gly209=) rs370540330
NM_001041.4(SI):c.635+3A>G rs879204269
NM_001041.4(SI):c.636-14C>T
NM_001041.4(SI):c.636-14_636-10del rs886058150
NM_001041.4(SI):c.639T>C (p.Phe213=) rs368517998
NM_001041.4(SI):c.748C>T (p.Arg250Cys) rs200745562
NM_001041.4(SI):c.749G>A (p.Arg250His)
NM_001041.4(SI):c.780T>G (p.Ile260Met)
NM_001041.4(SI):c.801T>C (p.Pro267=)
NM_001041.4(SI):c.808-14T>A rs762854920
NM_001041.4(SI):c.825C>T (p.Tyr275=)
NM_001041.4(SI):c.952G>A (p.Gly318Ser) rs749095854
NM_001041.4(SI):c.963G>A (p.Leu321=)

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