ClinVar Miner

List of variants in gene SLC52A2 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_001363118.2(SLC52A2):c.1163A>G (p.Tyr388Cys) rs148754028 0.00024
NM_001363118.2(SLC52A2):c.217C>T (p.Pro73Ser) rs782022070 0.00013
NM_001363118.2(SLC52A2):c.1277C>T (p.Pro426Leu) rs201673476 0.00012
NM_001363118.2(SLC52A2):c.920G>A (p.Arg307His) rs143091206 0.00011
NM_001363118.2(SLC52A2):c.863C>T (p.Ala288Val) rs764545993 0.00010
NM_001363118.2(SLC52A2):c.709G>C (p.Ala237Pro) rs373923619 0.00009
NM_001363118.2(SLC52A2):c.83A>G (p.Asn28Ser) rs141698844 0.00009
NM_001363118.2(SLC52A2):c.266T>C (p.Met89Thr) rs782539355 0.00007
NM_001363118.2(SLC52A2):c.1024C>T (p.Leu342Phe) rs531845498 0.00006
NM_001363118.2(SLC52A2):c.1064C>A (p.Ala355Glu) rs1173664250 0.00006
NM_001363118.2(SLC52A2):c.613G>A (p.Val205Ile) rs144883729 0.00006
NM_001363118.2(SLC52A2):c.1204C>T (p.Arg402Trp) rs371806077 0.00005
NM_001363118.2(SLC52A2):c.806A>G (p.Tyr269Cys) rs372057075 0.00005
NM_001363118.2(SLC52A2):c.1021G>A (p.Gly341Ser) rs1055759976 0.00004
NM_001363118.2(SLC52A2):c.1153G>A (p.Val385Met) rs376552382 0.00004
NM_001363118.2(SLC52A2):c.1228G>A (p.Val410Met) rs782298557 0.00004
NM_001363118.2(SLC52A2):c.1307G>A (p.Arg436Lys) rs372200881 0.00004
NM_001363118.2(SLC52A2):c.244C>T (p.Arg82Trp) rs782293996 0.00004
NM_001363118.2(SLC52A2):c.371C>T (p.Ala124Val) rs200753132 0.00004
NM_001363118.2(SLC52A2):c.433C>T (p.Arg145Trp) rs781916346 0.00004
NM_001363118.2(SLC52A2):c.511G>A (p.Glu171Lys) rs782584577 0.00004
NM_001363118.2(SLC52A2):c.541C>T (p.Pro181Ser) rs781908522 0.00004
NM_001363118.2(SLC52A2):c.556G>A (p.Asp186Asn) rs782269382 0.00004
NM_001363118.2(SLC52A2):c.63G>T (p.Met21Ile) rs764635442 0.00004
NM_001363118.2(SLC52A2):c.1181G>A (p.Ser394Asn) rs1564657964 0.00003
NM_001363118.2(SLC52A2):c.245G>C (p.Arg82Pro) rs377110942 0.00003
NM_001363118.2(SLC52A2):c.376T>G (p.Cys126Gly) rs781903086 0.00003
NM_001363118.2(SLC52A2):c.424C>T (p.Arg142Cys) rs1016614259 0.00003
NM_001363118.2(SLC52A2):c.478G>A (p.Val160Met) rs141953803 0.00003
NM_001363118.2(SLC52A2):c.602C>A (p.Thr201Asn) rs552024614 0.00003
NM_001363118.2(SLC52A2):c.853G>A (p.Ala285Thr) rs782119101 0.00003
NM_001363118.2(SLC52A2):c.897C>G (p.Ser299Arg) rs782501346 0.00003
NM_001363118.2(SLC52A2):c.1038C>T (p.Gly346=) rs782034472 0.00002
NM_001363118.2(SLC52A2):c.1110G>A (p.Ala370=) rs782238337 0.00002
NM_001363118.2(SLC52A2):c.1118T>G (p.Val373Gly) rs200245353 0.00002
NM_001363118.2(SLC52A2):c.1125+6C>T rs782760057 0.00002
NM_001363118.2(SLC52A2):c.1133C>T (p.Ser378Leu) rs781888282 0.00002
NM_001363118.2(SLC52A2):c.1160C>G (p.Ser387Cys) rs1213343967 0.00002
NM_001363118.2(SLC52A2):c.1193A>G (p.His398Arg) rs891211384 0.00002
NM_001363118.2(SLC52A2):c.1216C>G (p.Leu406Val) rs951559441 0.00002
NM_001363118.2(SLC52A2):c.1267A>G (p.Met423Val) rs560659799 0.00002
NM_001363118.2(SLC52A2):c.1280C>T (p.Thr427Ile) rs782658897 0.00002
NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser) rs781993535 0.00002
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841 0.00002
NM_001363118.2(SLC52A2):c.544G>A (p.Gly182Ser) rs782149467 0.00002
NM_001363118.2(SLC52A2):c.568C>T (p.Arg190Cys) rs201705744 0.00002
NM_001363118.2(SLC52A2):c.577G>A (p.Ala193Thr) rs781928955 0.00002
NM_001363118.2(SLC52A2):c.1025T>C (p.Leu342Pro) rs1399329664 0.00001
NM_001363118.2(SLC52A2):c.1137G>C (p.Trp379Cys) rs782764685 0.00001
NM_001363118.2(SLC52A2):c.116A>G (p.Lys39Arg) rs782174760 0.00001
NM_001363118.2(SLC52A2):c.1178C>T (p.Ala393Val) rs782396304 0.00001
NM_001363118.2(SLC52A2):c.1208C>T (p.Pro403Leu) rs782516139 0.00001
NM_001363118.2(SLC52A2):c.1225G>A (p.Gly409Ser) rs1216775653 0.00001
NM_001363118.2(SLC52A2):c.122T>C (p.Leu41Pro) rs1357218551 0.00001
NM_001363118.2(SLC52A2):c.1231G>A (p.Ala411Thr) rs782417765 0.00001
NM_001363118.2(SLC52A2):c.1244G>C (p.Gly415Ala) rs782245545 0.00001
NM_001363118.2(SLC52A2):c.1250T>C (p.Leu417Pro) rs782065920 0.00001
NM_001363118.2(SLC52A2):c.1276C>T (p.Pro426Ser) rs1057518291 0.00001
NM_001363118.2(SLC52A2):c.1302C>G (p.His434Gln) rs1554854658 0.00001
NM_001363118.2(SLC52A2):c.1304G>A (p.Ser435Asn) rs782453672 0.00001
NM_001363118.2(SLC52A2):c.151G>A (p.Val51Ile) rs781986043 0.00001
NM_001363118.2(SLC52A2):c.167C>T (p.Ala56Val) rs781884010 0.00001
NM_001363118.2(SLC52A2):c.197C>T (p.Thr66Ile) rs1341097702 0.00001
NM_001363118.2(SLC52A2):c.22C>T (p.Arg8Cys) rs782801416 0.00001
NM_001363118.2(SLC52A2):c.23G>A (p.Arg8His) rs781911494 0.00001
NM_001363118.2(SLC52A2):c.275C>T (p.Thr92Ile) rs1318322133 0.00001
NM_001363118.2(SLC52A2):c.302A>G (p.His101Arg) rs1302129336 0.00001
NM_001363118.2(SLC52A2):c.311C>A (p.Pro104Gln) rs782274380 0.00001
NM_001363118.2(SLC52A2):c.397C>A (p.Leu133Met) rs782582813 0.00001
NM_001363118.2(SLC52A2):c.401C>T (p.Pro134Leu) rs1447838904 0.00001
NM_001363118.2(SLC52A2):c.45G>A (p.Leu15=) rs1310797519 0.00001
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472 0.00001
NM_001363118.2(SLC52A2):c.533A>G (p.Asn178Ser) rs782368351 0.00001
NM_001363118.2(SLC52A2):c.545G>A (p.Gly182Asp) rs1818739205 0.00001
NM_001363118.2(SLC52A2):c.569G>A (p.Arg190His) rs753003655 0.00001
NM_001363118.2(SLC52A2):c.581G>A (p.Ser194Asn) rs782409764 0.00001
NM_001363118.2(SLC52A2):c.605C>T (p.Ala202Val) rs1166880307 0.00001
NM_001363118.2(SLC52A2):c.607C>T (p.Leu203Phe) rs1818752337 0.00001
NM_001363118.2(SLC52A2):c.616G>A (p.Ala206Thr) rs782602991 0.00001
NM_001363118.2(SLC52A2):c.620C>T (p.Ser207Leu) rs1275276031 0.00001
NM_001363118.2(SLC52A2):c.625G>A (p.Ala209Thr) rs1554854096 0.00001
NM_001363118.2(SLC52A2):c.650T>A (p.Leu217Gln) rs370367859 0.00001
NM_001363118.2(SLC52A2):c.656C>T (p.Pro219Leu) rs374006728 0.00001
NM_001363118.2(SLC52A2):c.724G>A (p.Glu242Lys) rs782595543 0.00001
NM_001363118.2(SLC52A2):c.740C>T (p.Ser247Phe) rs538577149 0.00001
NM_001363118.2(SLC52A2):c.823C>T (p.Arg275Cys) rs782627908 0.00001
NM_001363118.2(SLC52A2):c.893A>G (p.Gln298Arg) rs782673955 0.00001
NM_001363118.2(SLC52A2):c.998G>A (p.Cys333Tyr) rs562964502 0.00001
NC_000008.10:g.(?_145582954)_(145584675_?)dup
NC_000008.10:g.(?_145584230)_(145584675_?)dup
NC_000008.11:g.(?_144358571)_(144361296_?)dup
NM_001363118.2(SLC52A2):c.1004C>T (p.Ser335Phe)
NM_001363118.2(SLC52A2):c.1010C>T (p.Ala337Val) rs1818809777
NM_001363118.2(SLC52A2):c.1030C>G (p.Leu344Val) rs1301622384
NM_001363118.2(SLC52A2):c.1064C>T (p.Ala355Val) rs1173664250
NM_001363118.2(SLC52A2):c.1075C>G (p.Leu359Val)
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_001363118.2(SLC52A2):c.1101C>T (p.Gly367=) rs1818821746
NM_001363118.2(SLC52A2):c.1109C>T (p.Ala370Val)
NM_001363118.2(SLC52A2):c.1125+14G>T rs2130650475
NM_001363118.2(SLC52A2):c.1125G>A (p.Val375=) rs1376573822
NM_001363118.2(SLC52A2):c.1126-2A>C rs1554854548
NM_001363118.2(SLC52A2):c.1150G>A (p.Gly384Ser) rs782593601
NM_001363118.2(SLC52A2):c.1165G>T (p.Val389Leu) rs782200719
NM_001363118.2(SLC52A2):c.1166T>G (p.Val389Gly) rs1818837782
NM_001363118.2(SLC52A2):c.1181G>C (p.Ser394Thr)
NM_001363118.2(SLC52A2):c.11C>G (p.Pro4Arg) rs1554853726
NM_001363118.2(SLC52A2):c.1232C>A (p.Ala411Asp)
NM_001363118.2(SLC52A2):c.1240G>A (p.Val414Met) rs1554854625
NM_001363118.2(SLC52A2):c.124C>T (p.Pro42Ser) rs1175039425
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_001363118.2(SLC52A2):c.1259C>T (p.Ala420Val) rs1554854637
NM_001363118.2(SLC52A2):c.1277dup (p.Thr427fs)
NM_001363118.2(SLC52A2):c.127G>C (p.Glu43Gln)
NM_001363118.2(SLC52A2):c.1282A>G (p.Ser428Gly) rs2130653128
NM_001363118.2(SLC52A2):c.1303A>G (p.Ser435Gly)
NM_001363118.2(SLC52A2):c.130G>A (p.Gly44Ser)
NM_001363118.2(SLC52A2):c.1315T>C (p.Cys439Arg) rs1554854661
NM_001363118.2(SLC52A2):c.1315T>G (p.Cys439Gly) rs1554854661
NM_001363118.2(SLC52A2):c.1323C>A (p.Asp441Glu) rs1554854664
NM_001363118.2(SLC52A2):c.1324C>T (p.Pro442Ser) rs2130653590
NM_001363118.2(SLC52A2):c.1325C>A (p.Pro442His) rs2130653606
NM_001363118.2(SLC52A2):c.143C>T (p.Pro48Leu) rs1554853840
NM_001363118.2(SLC52A2):c.145T>C (p.Ser49Pro) rs1818690648
NM_001363118.2(SLC52A2):c.154T>A (p.Ser52Thr)
NM_001363118.2(SLC52A2):c.157G>C (p.Val53Leu)
NM_001363118.2(SLC52A2):c.157G>T (p.Val53Leu) rs150137023
NM_001363118.2(SLC52A2):c.164T>C (p.Val55Ala) rs1554853854
NM_001363118.2(SLC52A2):c.176A>G (p.Asn59Ser) rs1264287581
NM_001363118.2(SLC52A2):c.178C>G (p.Leu60Val) rs201213634
NM_001363118.2(SLC52A2):c.184C>G (p.Leu62Val) rs1221859064
NM_001363118.2(SLC52A2):c.193G>A (p.Val65Met) rs2130637925
NM_001363118.2(SLC52A2):c.209G>A (p.Arg70Lys) rs1818697851
NM_001363118.2(SLC52A2):c.214G>A (p.Ala72Thr)
NM_001363118.2(SLC52A2):c.224A>G (p.Lys75Arg) rs1170458731
NM_001363118.2(SLC52A2):c.226G>A (p.Asp76Asn) rs782300218
NM_001363118.2(SLC52A2):c.229G>A (p.Glu77Lys)
NM_001363118.2(SLC52A2):c.245G>A (p.Arg82Gln) rs377110942
NM_001363118.2(SLC52A2):c.258G>C (p.Val86=)
NM_001363118.2(SLC52A2):c.26C>G (p.Pro9Arg) rs782458266
NM_001363118.2(SLC52A2):c.280C>G (p.Leu94Val) rs1586553484
NM_001363118.2(SLC52A2):c.287C>T (p.Ala96Val)
NM_001363118.2(SLC52A2):c.28G>A (p.Val10Met) rs1818662387
NM_001363118.2(SLC52A2):c.290C>T (p.Ser97Phe) rs1818706654
NM_001363118.2(SLC52A2):c.308C>T (p.Ala103Val) rs1818709257
NM_001363118.2(SLC52A2):c.317C>T (p.Ala106Val)
NM_001363118.2(SLC52A2):c.319G>A (p.Gly107Arg) rs1330914046
NM_001363118.2(SLC52A2):c.328C>T (p.His110Tyr) rs1818711477
NM_001363118.2(SLC52A2):c.339CTT[1] (p.Phe114del) rs782498327
NM_001363118.2(SLC52A2):c.346G>A (p.Ala116Thr) rs1554853918
NM_001363118.2(SLC52A2):c.353C>T (p.Ala118Val) rs117500243
NM_001363118.2(SLC52A2):c.377G>A (p.Cys126Tyr) rs998301770
NM_001363118.2(SLC52A2):c.385A>T (p.Asn129Tyr)
NM_001363118.2(SLC52A2):c.400C>T (p.Pro134Ser) rs1818720104
NM_001363118.2(SLC52A2):c.418C>T (p.Pro140Ser) rs782668296
NM_001363118.2(SLC52A2):c.425G>A (p.Arg142His) rs560681538
NM_001363118.2(SLC52A2):c.432A>C (p.Leu144Phe) rs2130640798
NM_001363118.2(SLC52A2):c.434G>A (p.Arg145Gln)
NM_001363118.2(SLC52A2):c.437C>T (p.Ser146Leu)
NM_001363118.2(SLC52A2):c.449G>A (p.Gly150Asp) rs1365149837
NM_001363118.2(SLC52A2):c.44T>A (p.Leu15Gln) rs2130634152
NM_001363118.2(SLC52A2):c.466C>G (p.Leu156Val)
NM_001363118.2(SLC52A2):c.479T>G (p.Val160Gly)
NM_001363118.2(SLC52A2):c.49G>T (p.Ala17Ser)
NM_001363118.2(SLC52A2):c.506G>A (p.Arg169His) rs1554854014
NM_001363118.2(SLC52A2):c.518C>T (p.Pro173Leu)
NM_001363118.2(SLC52A2):c.550C>T (p.Pro184Ser)
NM_001363118.2(SLC52A2):c.555C>A (p.Leu185=) rs74370046
NM_001363118.2(SLC52A2):c.563T>G (p.Leu188Arg) rs2130642434
NM_001363118.2(SLC52A2):c.565G>A (p.Glu189Lys) rs1818743331
NM_001363118.2(SLC52A2):c.580_581inv (p.Ser194Leu)
NM_001363118.2(SLC52A2):c.587TCT[1] (p.Phe197del) rs781879748
NM_001363118.2(SLC52A2):c.608T>C (p.Leu203Pro)
NM_001363118.2(SLC52A2):c.610C>A (p.Leu204Met) rs369895693
NM_001363118.2(SLC52A2):c.62T>A (p.Met21Lys)
NM_001363118.2(SLC52A2):c.640C>G (p.Leu214Val) rs1818757129
NM_001363118.2(SLC52A2):c.644T>A (p.Leu215Gln)
NM_001363118.2(SLC52A2):c.655C>T (p.Pro219Ser) rs782793102
NM_001363118.2(SLC52A2):c.658CCA[2] (p.Pro222del) rs1411614875
NM_001363118.2(SLC52A2):c.68C>A (p.Ser23Tyr) rs1564653909
NM_001363118.2(SLC52A2):c.698T>C (p.Leu233Pro)
NM_001363118.2(SLC52A2):c.709G>A (p.Ala237Thr) rs373923619
NM_001363118.2(SLC52A2):c.716G>A (p.Gly239Glu)
NM_001363118.2(SLC52A2):c.718G>A (p.Ala240Thr) rs782465158
NM_001363118.2(SLC52A2):c.719C>A (p.Ala240Glu) rs1001418068
NM_001363118.2(SLC52A2):c.736G>C (p.Glu246Gln) rs879254314
NM_001363118.2(SLC52A2):c.758C>T (p.Pro253Leu) rs2130644912
NM_001363118.2(SLC52A2):c.775G>A (p.Gly259Ser) rs2130645113
NM_001363118.2(SLC52A2):c.777C>T (p.Gly259=) rs1554854195
NM_001363118.2(SLC52A2):c.77C>T (p.Ala26Val) rs782192779
NM_001363118.2(SLC52A2):c.781A>T (p.Thr261Ser) rs915304756
NM_001363118.2(SLC52A2):c.782C>G (p.Thr261Ser)
NM_001363118.2(SLC52A2):c.790C>T (p.Pro264Ser) rs1554854209
NM_001363118.2(SLC52A2):c.795C>A (p.Asp265Glu) rs1237300879
NM_001363118.2(SLC52A2):c.796C>T (p.Pro266Ser)
NM_001363118.2(SLC52A2):c.818C>T (p.Ser273Leu) rs532053820
NM_001363118.2(SLC52A2):c.824G>T (p.Arg275Leu) rs144912258
NM_001363118.2(SLC52A2):c.832T>C (p.Cys278Arg) rs2130645915
NM_001363118.2(SLC52A2):c.833G>T (p.Cys278Phe) rs2130645931
NM_001363118.2(SLC52A2):c.889G>T (p.Val297Leu) rs782725706
NM_001363118.2(SLC52A2):c.902C>T (p.Ser301Phe)
NM_001363118.2(SLC52A2):c.911C>T (p.Pro304Leu) rs2130646783
NM_001363118.2(SLC52A2):c.919C>T (p.Arg307Cys) rs781996408
NM_001363118.2(SLC52A2):c.926C>T (p.Ala309Val) rs1554854307
NM_001363118.2(SLC52A2):c.955G>A (p.Ala319Thr)
NM_001363118.2(SLC52A2):c.962A>G (p.Asn321Ser) rs540314261
NM_001363118.2(SLC52A2):c.989G>T (p.Gly330Val) rs782177542

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