ClinVar Miner

List of variants in gene HGSNAT reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.*2068A>G rs141499920 0.00389
NM_152419.3(HGSNAT):c.*2341G>A rs143662681 0.00364
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00245
NM_152419.3(HGSNAT):c.*3176G>A rs138613130 0.00146
NM_152419.3(HGSNAT):c.*871C>A rs151315641 0.00133
NM_152419.3(HGSNAT):c.*149G>T rs191719106 0.00116
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_152419.3(HGSNAT):c.*304C>A rs752711559 0.00078
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_152419.3(HGSNAT):c.*778T>C rs557848863 0.00070
NM_152419.3(HGSNAT):c.*772C>G rs538483135 0.00069
NM_152419.3(HGSNAT):c.*390G>A rs541493842 0.00060
NM_152419.3(HGSNAT):c.*3198G>A rs576281567 0.00042
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.*2591G>A rs760484403 0.00033
NM_152419.3(HGSNAT):c.*3086C>T rs531967582 0.00033
NM_152419.3(HGSNAT):c.*1251C>A rs756060730 0.00032
NM_152419.3(HGSNAT):c.*2266G>T rs75120048 0.00025
NM_152419.3(HGSNAT):c.*2538A>G rs192349256 0.00019
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser) rs371273730 0.00018
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=) rs371042202 0.00017
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00016
NM_152419.3(HGSNAT):c.*2472G>C rs773357212 0.00014
NM_152419.3(HGSNAT):c.*2502A>G rs763278248 0.00014
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00010
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys) rs201735532 0.00008
NM_152419.3(HGSNAT):c.*1215C>T rs571287184 0.00007
NM_152419.3(HGSNAT):c.*1854C>T rs567024411 0.00007
NM_152419.3(HGSNAT):c.*851A>G rs192792114 0.00007
NM_152419.3(HGSNAT):c.*1064A>G rs886062958 0.00006
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00006
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_152419.3(HGSNAT):c.*1034G>A rs886062957 0.00005
NM_152419.3(HGSNAT):c.*1436A>G rs373032953 0.00005
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482 0.00005
NM_152419.3(HGSNAT):c.*1112C>T rs1403363860 0.00004
NM_152419.3(HGSNAT):c.*1378C>T rs886062960 0.00004
NM_152419.3(HGSNAT):c.*2233G>A rs372413542 0.00004
NM_152419.3(HGSNAT):c.*2643G>A rs141803972 0.00004
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647 0.00004
NM_152419.3(HGSNAT):c.*1137C>T rs142422330 0.00003
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp) rs375524490 0.00003
NM_152419.3(HGSNAT):c.*619T>C rs1000241712 0.00002
NM_152419.3(HGSNAT):c.*649A>G rs1333110406 0.00002
NM_152419.3(HGSNAT):c.1128+3G>A rs1401358094 0.00002
NM_152419.3(HGSNAT):c.371+15T>A rs372920077 0.00002
NM_152419.3(HGSNAT):c.*160C>T rs886062955 0.00001
NM_152419.3(HGSNAT):c.*1841G>A rs886062962 0.00001
NM_152419.3(HGSNAT):c.*2305A>G rs886062963 0.00001
NM_152419.3(HGSNAT):c.*2756G>A rs564747354 0.00001
NM_152419.3(HGSNAT):c.*2801C>G rs886062964 0.00001
NM_152419.3(HGSNAT):c.*2967C>T rs549454910 0.00001
NM_152419.3(HGSNAT):c.*3241A>G rs886062966 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.563+3A>G rs753027018 0.00001
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=) rs1355715592 0.00001
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala) rs758464800 0.00001
NM_152419.3(HGSNAT):c.*1026G>C rs533282054
NM_152419.3(HGSNAT):c.*1100_*1103del rs886062959
NM_152419.3(HGSNAT):c.*1204C>A rs763225051
NM_152419.3(HGSNAT):c.*1214C>A rs1250097718
NM_152419.3(HGSNAT):c.*1219G>A rs989915640
NM_152419.3(HGSNAT):c.*1331T>A rs543569352
NM_152419.3(HGSNAT):c.*1584A>G rs1804905348
NM_152419.3(HGSNAT):c.*1696T>G rs1278712308
NM_152419.3(HGSNAT):c.*1750C>T rs886062961
NM_152419.3(HGSNAT):c.*1925A>G rs1804916088
NM_152419.3(HGSNAT):c.*196T>G rs886062956
NM_152419.3(HGSNAT):c.*2434G>A rs1804930624
NM_152419.3(HGSNAT):c.*2620A>C rs1804936973
NM_152419.3(HGSNAT):c.*2806G>C rs541393074
NM_152419.3(HGSNAT):c.*2950A>G rs1804948886
NM_152419.3(HGSNAT):c.*3044dup rs886062965
NM_152419.3(HGSNAT):c.*574C>G rs1804870887
NM_152419.3(HGSNAT):c.*581T>C rs772452020
NM_152419.3(HGSNAT):c.*612A>C rs1325231089
NM_152419.3(HGSNAT):c.*857C>T rs143991538
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu) rs1804527192
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val) rs1266245327
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly) rs764229375
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His) rs886062954

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.