ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NM_152419.2(HGSNAT):c.-37C>T rs886062951
NM_152419.3(HGSNAT):c.*1026G>C
NM_152419.3(HGSNAT):c.*1034G>A rs886062957
NM_152419.3(HGSNAT):c.*1064A>G rs886062958
NM_152419.3(HGSNAT):c.*1100_*1103del rs886062959
NM_152419.3(HGSNAT):c.*1112C>T
NM_152419.3(HGSNAT):c.*1137C>T rs142422330
NM_152419.3(HGSNAT):c.*1204C>A rs763225051
NM_152419.3(HGSNAT):c.*1214C>A
NM_152419.3(HGSNAT):c.*1215C>T rs571287184
NM_152419.3(HGSNAT):c.*1219G>A
NM_152419.3(HGSNAT):c.*1251C>A rs756060730
NM_152419.3(HGSNAT):c.*1331T>A rs543569352
NM_152419.3(HGSNAT):c.*1378C>T rs886062960
NM_152419.3(HGSNAT):c.*1436A>G rs373032953
NM_152419.3(HGSNAT):c.*149G>T rs191719106
NM_152419.3(HGSNAT):c.*1584A>G
NM_152419.3(HGSNAT):c.*160C>T rs886062955
NM_152419.3(HGSNAT):c.*1696T>G
NM_152419.3(HGSNAT):c.*1750C>T rs886062961
NM_152419.3(HGSNAT):c.*1841G>A rs886062962
NM_152419.3(HGSNAT):c.*1854C>T rs567024411
NM_152419.3(HGSNAT):c.*1925A>G
NM_152419.3(HGSNAT):c.*196T>G rs886062956
NM_152419.3(HGSNAT):c.*2068A>G rs141499920
NM_152419.3(HGSNAT):c.*2233G>A rs372413542
NM_152419.3(HGSNAT):c.*2266G>T rs75120048
NM_152419.3(HGSNAT):c.*2305A>G rs886062963
NM_152419.3(HGSNAT):c.*2341G>A rs143662681
NM_152419.3(HGSNAT):c.*2434G>A
NM_152419.3(HGSNAT):c.*2472G>C
NM_152419.3(HGSNAT):c.*2502A>G rs763278248
NM_152419.3(HGSNAT):c.*2538A>G
NM_152419.3(HGSNAT):c.*2591G>A
NM_152419.3(HGSNAT):c.*2620A>C
NM_152419.3(HGSNAT):c.*2643G>A rs141803972
NM_152419.3(HGSNAT):c.*2756G>A rs564747354
NM_152419.3(HGSNAT):c.*2801C>G rs886062964
NM_152419.3(HGSNAT):c.*2806G>C
NM_152419.3(HGSNAT):c.*2950A>G
NM_152419.3(HGSNAT):c.*2967C>T
NM_152419.3(HGSNAT):c.*3044dup rs886062965
NM_152419.3(HGSNAT):c.*304C>A rs752711559
NM_152419.3(HGSNAT):c.*3086C>T
NM_152419.3(HGSNAT):c.*3176G>A
NM_152419.3(HGSNAT):c.*3198G>A
NM_152419.3(HGSNAT):c.*3241A>G rs886062966
NM_152419.3(HGSNAT):c.*390G>A rs541493842
NM_152419.3(HGSNAT):c.*574C>G
NM_152419.3(HGSNAT):c.*581T>C
NM_152419.3(HGSNAT):c.*612A>C
NM_152419.3(HGSNAT):c.*619T>C
NM_152419.3(HGSNAT):c.*649A>G
NM_152419.3(HGSNAT):c.*772C>G
NM_152419.3(HGSNAT):c.*778T>C
NM_152419.3(HGSNAT):c.*851A>G
NM_152419.3(HGSNAT):c.*857C>T
NM_152419.3(HGSNAT):c.*871C>A
NM_152419.3(HGSNAT):c.-3G>C
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
NM_152419.3(HGSNAT):c.1012+2dup rs1554533241
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu)
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr) rs1476919967
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) rs886062953
NM_152419.3(HGSNAT):c.1128+3G>A
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu)
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly)
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val)
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val)
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
NM_152419.3(HGSNAT):c.1465-10T>C
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr)
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) rs377050184
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe)
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter)
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr)
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter)
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser)
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser) rs1563388121
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter) rs1554538302
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs) rs1554538306
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663
NM_152419.3(HGSNAT):c.199_200insCAT (p.Leu67_Thr68insSer) rs1409093216
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)
NM_152419.3(HGSNAT):c.234+14C>G rs146429523
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152419.3(HGSNAT):c.371+15T>A rs372920077
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser)
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe)
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln) rs1554529803
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr)
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup) rs1303048852
NM_152419.3(HGSNAT):c.563+3A>G
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe)
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His)
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup) rs1554531686
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys) rs1586725294
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu) rs1218261294
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys) rs1554532014
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His) rs886062954
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr)
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)

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