ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-C

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ClinVar version:
Total variants: 175
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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.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129 0.00134
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.12G>A (p.Ala4=) rs1018475767 0.00061
NM_152419.3(HGSNAT):c.*390G>A rs541493842 0.00060
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663 0.00059
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729 0.00046
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.17G>A (p.Arg6Lys) rs867446205 0.00035
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.108G>A (p.Ala36=) rs886062952 0.00031
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.1272C>T (p.Gly424=) rs147251143 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.145C>A (p.Leu49Met) rs372961495 0.00016
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.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met) rs367831580 0.00010
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00010
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro) rs1025643467 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.479T>C (p.Val160Ala) rs369469113 0.00008
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr) rs369975831 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.616G>A (p.Asp206Asn) rs367799225 0.00006
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val) rs777641646 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.691T>C (p.Trp231Arg) rs980989948 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.-3G>C rs1162962895 0.00004
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe) rs369280586 0.00004
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg) rs553588867 0.00004
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile) rs374287774 0.00004
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647 0.00004
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala) rs201952563 0.00004
NM_152419.3(HGSNAT):c.*1137C>T rs142422330 0.00003
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu) rs746875137 0.00003
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg) rs368082613 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.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.371+15T>A rs372920077 0.00002
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp) rs774990357 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.1099G>A (p.Ala367Thr) rs1476919967 0.00001
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu) rs1465935790 0.00001
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) rs886062953 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr) rs1804531287 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596 0.00001
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro) rs1433404175 0.00001
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met) rs561701894 0.00001
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys) rs1163166400 0.00001
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val) rs776791119 0.00001
NM_152419.3(HGSNAT):c.234C>T (p.His78=) rs760790643 0.00001
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg) rs1427202401 0.00001
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr) rs768887468 0.00001
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666 0.00001
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser) rs752128693 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.619C>T (p.Arg207Cys) rs199861011 0.00001
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly) rs1803591916 0.00001
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala) rs758464800 0.00001
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met) rs1287447019 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 0.00001
NM_152419.3(HGSNAT):c.*1026G>C rs533282054
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.*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.1012+2dup rs1554533241
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln) rs1299209150
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu) rs1804152812
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu) rs377486419
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu) rs1804527192
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His) rs1220333666
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=) rs2130807297
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys) rs777276988
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val) rs1804622640
NM_152419.3(HGSNAT):c.1465-10T>C rs1804745819
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1517G>A (p.Arg506Gln)
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys) rs1177263214
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser) rs754143732
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro) rs928930218
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val) rs1266245327
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) rs1413168448
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs) rs1554538306
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg) rs1804852352
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer) rs1409093216
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly) rs764229375
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr) rs374071098
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg) rs374071098
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln) rs1554529803
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys) rs553837106
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met) rs1195940980
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup) rs1303048852
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup) rs1554531686
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys) rs1554532014
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
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.981_983del (p.Ile328del) rs752374933

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