ClinVar Miner

List of variants in gene SLC52A2 studied for brown-Vialetto-van Laere syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 429
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HGVS dbSNP gnomAD frequency
NM_001363118.2(SLC52A2):c.-110-5T>C rs3817681 0.35735
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_001363118.2(SLC52A2):c.1001+6C>T rs139398461 0.00306
NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=) rs74370046 0.00303
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=) rs147954962 0.00148
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=) rs111588500 0.00090
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=) rs138107380 0.00078
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser) rs151081625 0.00058
NM_001363118.2(SLC52A2):c.696C>T (p.Gly232=) rs577719492 0.00043
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr) rs566858747 0.00031
NM_001363118.2(SLC52A2):c.1173G>A (p.Val391=) rs374011301 0.00025
NM_001363118.2(SLC52A2):c.1163A>G (p.Tyr388Cys) rs148754028 0.00024
NM_001363118.2(SLC52A2):c.359T>C (p.Val120Ala) rs74445699 0.00018
NM_001363118.2(SLC52A2):c.1113G>A (p.Gly371=) rs149575570 0.00016
NM_001363118.2(SLC52A2):c.217C>T (p.Pro73Ser) rs782022070 0.00013
NM_001363118.2(SLC52A2):c.540C>A (p.Thr180=) rs782708300 0.00013
NM_001363118.2(SLC52A2):c.888C>T (p.Ala296=) rs375399467 0.00013
NM_001363118.2(SLC52A2):c.1106C>T (p.Ser369Leu) rs138160033 0.00012
NM_001363118.2(SLC52A2):c.1277C>T (p.Pro426Leu) rs201673476 0.00012
NM_001363118.2(SLC52A2):c.309C>T (p.Ala103=) rs146256291 0.00012
NM_001363118.2(SLC52A2):c.487C>T (p.Leu163=) rs781887989 0.00012
NM_001363118.2(SLC52A2):c.1074C>T (p.Val358=) rs142697341 0.00011
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=) rs374612342 0.00011
NM_001363118.2(SLC52A2):c.1320A>G (p.Ala440=) rs189845609 0.00011
NM_001363118.2(SLC52A2):c.384G>A (p.Ser128=) rs140003920 0.00011
NM_001363118.2(SLC52A2):c.822C>A (p.Ala274=) rs145009003 0.00011
NM_001363118.2(SLC52A2):c.920G>A (p.Arg307His) rs143091206 0.00011
NM_001363118.2(SLC52A2):c.370G>T (p.Ala124Ser) rs146274588 0.00010
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.84T>C (p.Asn28=) rs200102613 0.00009
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_001363118.2(SLC52A2):c.131-12C>T rs772839526 0.00008
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.835C>T (p.Leu279=) rs782298419 0.00006
NM_001363118.2(SLC52A2):c.915C>T (p.Tyr305=) rs575769956 0.00006
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001363118.2(SLC52A2):c.1204C>T (p.Arg402Trp) rs371806077 0.00005
NM_001363118.2(SLC52A2):c.1227C>T (p.Gly409=) rs147518188 0.00005
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862 0.00005
NM_001363118.2(SLC52A2):c.806A>G (p.Tyr269Cys) rs372057075 0.00005
NM_001363118.2(SLC52A2):c.1001+9G>A rs369357625 0.00004
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.510C>T (p.Leu170=) rs782181319 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.576C>T (p.Pro192=) rs782333547 0.00004
NM_001363118.2(SLC52A2):c.606C>T (p.Ala202=) rs187632310 0.00004
NM_001363118.2(SLC52A2):c.627T>C (p.Ala209=) rs782019841 0.00004
NM_001363118.2(SLC52A2):c.63G>T (p.Met21Ile) rs764635442 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001363118.2(SLC52A2):c.1125+15A>C rs1157634743 0.00003
NM_001363118.2(SLC52A2):c.1181G>A (p.Ser394Asn) rs1564657964 0.00003
NM_001363118.2(SLC52A2):c.1224C>T (p.Ala408=) rs371456902 0.00003
NM_001363118.2(SLC52A2):c.1257C>T (p.Gly419=) rs199767089 0.00003
NM_001363118.2(SLC52A2):c.1293C>T (p.His431=) rs184190914 0.00003
NM_001363118.2(SLC52A2):c.131-11C>G rs782241960 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.528C>T (p.Pro176=) rs782121875 0.00003
NM_001363118.2(SLC52A2):c.602C>A (p.Thr201Asn) rs552024614 0.00003
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539 0.00003
NM_001363118.2(SLC52A2):c.852C>T (p.Ala284=) rs368287241 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.948G>A (p.Leu316=) rs370929795 0.00003
NM_001363118.2(SLC52A2):c.1002-11G>A rs369561558 0.00002
NM_001363118.2(SLC52A2):c.1002-15del rs782455981 0.00002
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.1152C>T (p.Gly384=) rs782168938 0.00002
NM_001363118.2(SLC52A2):c.1160C>G (p.Ser387Cys) rs1213343967 0.00002
NM_001363118.2(SLC52A2):c.1164C>T (p.Tyr388=) rs370533575 0.00002
NM_001363118.2(SLC52A2):c.1193A>G (p.His398Arg) rs891211384 0.00002
NM_001363118.2(SLC52A2):c.1197C>T (p.Gly399=) rs144821688 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.131-8C>T rs369154606 0.00002
NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser) rs781993535 0.00002
NM_001363118.2(SLC52A2):c.177C>T (p.Asn59=) rs372988060 0.00002
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841 0.00002
NM_001363118.2(SLC52A2):c.471G>A (p.Leu157=) rs781811083 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.861C>T (p.Asn287=) rs782362832 0.00002
NM_001363118.2(SLC52A2):c.951C>T (p.Gly317=) rs543461928 0.00002
NM_001363118.2(SLC52A2):c.1001+20C>T rs782320817 0.00001
NM_001363118.2(SLC52A2):c.1002-12C>T rs782803959 0.00001
NM_001363118.2(SLC52A2):c.1025T>C (p.Leu342Pro) rs1399329664 0.00001
NM_001363118.2(SLC52A2):c.1053C>A (p.Gly351=) rs1393988722 0.00001
NM_001363118.2(SLC52A2):c.1075C>T (p.Leu359=) rs1208675754 0.00001
NM_001363118.2(SLC52A2):c.1094del (p.Leu365fs) rs1564657463 0.00001
NM_001363118.2(SLC52A2):c.1125+17A>G rs1470284068 0.00001
NM_001363118.2(SLC52A2):c.1126-8C>T rs374205790 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.1258G>A (p.Ala420Thr) rs368924997 0.00001
NM_001363118.2(SLC52A2):c.126A>C (p.Pro42=) rs527404024 0.00001
NM_001363118.2(SLC52A2):c.1276C>T (p.Pro426Ser) rs1057518291 0.00001
NM_001363118.2(SLC52A2):c.1278G>A (p.Pro426=) rs782560735 0.00001
NM_001363118.2(SLC52A2):c.1289A>G (p.Tyr430Cys) rs781873022 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.147T>C (p.Ser49=) rs782085386 0.00001
NM_001363118.2(SLC52A2):c.151G>A (p.Val51Ile) rs781986043 0.00001
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe) rs397514657 0.00001
NM_001363118.2(SLC52A2):c.167C>T (p.Ala56Val) rs781884010 0.00001
NM_001363118.2(SLC52A2):c.169C>T (p.Leu57=) rs782549718 0.00001
NM_001363118.2(SLC52A2):c.178C>T (p.Leu60=) rs201213634 0.00001
NM_001363118.2(SLC52A2):c.197C>T (p.Thr66Ile) rs1341097702 0.00001
NM_001363118.2(SLC52A2):c.219A>G (p.Pro73=) rs1586553168 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.246G>A (p.Arg82=) rs1554853885 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.327G>A (p.Leu109=) rs1466282450 0.00001
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538 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.468G>T (p.Leu156=) rs781959767 0.00001
NM_001363118.2(SLC52A2):c.501G>A (p.Val167=) rs1818732919 0.00001
NM_001363118.2(SLC52A2):c.504C>T (p.Gly168=) rs1554854012 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.534C>T (p.Asn178=) rs142879103 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.615C>T (p.Val205=) rs549377529 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.657G>A (p.Pro219=) rs141909863 0.00001
NM_001363118.2(SLC52A2):c.663A>G (p.Pro221=) rs1038513138 0.00001
NM_001363118.2(SLC52A2):c.679G>A (p.Gly227Arg) rs781816242 0.00001
NM_001363118.2(SLC52A2):c.711C>G (p.Ala237=) rs1024265039 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.751C>T (p.Gln251Ter) rs1312209529 0.00001
NM_001363118.2(SLC52A2):c.756G>A (p.Glu252=) rs1554854179 0.00001
NM_001363118.2(SLC52A2):c.783C>T (p.Thr261=) rs1281874988 0.00001
NM_001363118.2(SLC52A2):c.823C>T (p.Arg275Cys) rs782627908 0.00001
NM_001363118.2(SLC52A2):c.825C>T (p.Arg275=) rs934259287 0.00001
NM_001363118.2(SLC52A2):c.864G>A (p.Ala288=) rs782702240 0.00001
NM_001363118.2(SLC52A2):c.876C>T (p.Gly292=) rs782144205 0.00001
NM_001363118.2(SLC52A2):c.893A>G (p.Gln298Arg) rs782673955 0.00001
NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) rs398123068 0.00001
NM_001363118.2(SLC52A2):c.918G>A (p.Gly306=) rs149050347 0.00001
NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser) rs797045199 0.00001
NM_001363118.2(SLC52A2):c.968T>C (p.Leu323Pro) rs781842708 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_?)del
NC_000008.11:g.(?_144358571)_(144361296_?)dup
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682
NM_001363118.2(SLC52A2):c.1001+18G>T
NM_001363118.2(SLC52A2):c.1002-17C>G
NM_001363118.2(SLC52A2):c.1002-18T>C
NM_001363118.2(SLC52A2):c.1002-7A>G
NM_001363118.2(SLC52A2):c.1004C>T (p.Ser335Phe)
NM_001363118.2(SLC52A2):c.1010C>T (p.Ala337Val) rs1818809777
NM_001363118.2(SLC52A2):c.1017G>C (p.Leu339=)
NM_001363118.2(SLC52A2):c.1023C>A (p.Gly341=) rs567624974
NM_001363118.2(SLC52A2):c.1030C>G (p.Leu344Val) rs1301622384
NM_001363118.2(SLC52A2):c.1030_1031del (p.Leu344fs) rs1328651461
NM_001363118.2(SLC52A2):c.1059G>A (p.Leu353=)
NM_001363118.2(SLC52A2):c.1059G>T (p.Leu353=) rs1818816659
NM_001363118.2(SLC52A2):c.1064C>T (p.Ala355Val) rs1173664250
NM_001363118.2(SLC52A2):c.1065G>A (p.Ala355=) rs200618841
NM_001363118.2(SLC52A2):c.1065G>T (p.Ala355=) rs200618841
NM_001363118.2(SLC52A2):c.1075C>G (p.Leu359Val)
NM_001363118.2(SLC52A2):c.1076_1079del (p.Leu359fs) rs1586558204
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_001363118.2(SLC52A2):c.108G>A (p.Val36=)
NM_001363118.2(SLC52A2):c.1092C>T (p.Pro364=) rs2130649884
NM_001363118.2(SLC52A2):c.1101C>T (p.Gly367=) rs1818821746
NM_001363118.2(SLC52A2):c.1107G>A (p.Ser369=) rs1279173611
NM_001363118.2(SLC52A2):c.1109C>T (p.Ala370Val)
NM_001363118.2(SLC52A2):c.1116G>C (p.Val372=) rs200631895
NM_001363118.2(SLC52A2):c.111G>A (p.Val37=)
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.1126-5C>T rs1554854547
NM_001363118.2(SLC52A2):c.1126-6C>T rs2130651167
NM_001363118.2(SLC52A2):c.1126-9C>T
NM_001363118.2(SLC52A2):c.1134G>A (p.Ser378=)
NM_001363118.2(SLC52A2):c.1137G>A (p.Trp379Ter) rs782764685
NM_001363118.2(SLC52A2):c.1140del (p.Leu381fs) rs879254305
NM_001363118.2(SLC52A2):c.1150G>A (p.Gly384Ser) rs782593601
NM_001363118.2(SLC52A2):c.1152C>A (p.Gly384=)
NM_001363118.2(SLC52A2):c.1155G>A (p.Val385=) rs782258151
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.116_130+83del rs1564653965
NM_001363118.2(SLC52A2):c.1181G>C (p.Ser394Thr)
NM_001363118.2(SLC52A2):c.11C>G (p.Pro4Arg) rs1554853726
NM_001363118.2(SLC52A2):c.1200G>A (p.Gly400=)
NM_001363118.2(SLC52A2):c.1209G>T (p.Pro403=)
NM_001363118.2(SLC52A2):c.1212A>G (p.Ala404=)
NM_001363118.2(SLC52A2):c.1214T>C (p.Leu405Ser)
NM_001363118.2(SLC52A2):c.1221A>T (p.Ala407=)
NM_001363118.2(SLC52A2):c.1232C>A (p.Ala411Asp)
NM_001363118.2(SLC52A2):c.1233C>T (p.Ala411=)
NM_001363118.2(SLC52A2):c.123T>C (p.Leu41=) rs1554853779
NM_001363118.2(SLC52A2):c.1240G>A (p.Val414Met) rs1554854625
NM_001363118.2(SLC52A2):c.1245C>T (p.Gly415=) rs545630597
NM_001363118.2(SLC52A2):c.1249C>T (p.Leu417=)
NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala) rs1175039425
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.1272C>T (p.Phe424=)
NM_001363118.2(SLC52A2):c.1275C>G (p.Pro425=) rs1818852282
NM_001363118.2(SLC52A2):c.1277dup (p.Thr427fs)
NM_001363118.2(SLC52A2):c.1278G>C (p.Pro426=) rs782560735
NM_001363118.2(SLC52A2):c.127G>C (p.Glu43Gln)
NM_001363118.2(SLC52A2):c.1282A>G (p.Ser428Gly) rs2130653128
NM_001363118.2(SLC52A2):c.130+13G>A rs1818673228
NM_001363118.2(SLC52A2):c.1303A>G (p.Ser435Gly)
NM_001363118.2(SLC52A2):c.130G>A (p.Gly44Ser)
NM_001363118.2(SLC52A2):c.131-11C>T
NM_001363118.2(SLC52A2):c.131-16C>T rs2130636815
NM_001363118.2(SLC52A2):c.131-19C>T
NM_001363118.2(SLC52A2):c.131-1G>C rs782305211
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.1326C>T (p.Pro442=)
NM_001363118.2(SLC52A2):c.143C>T (p.Pro48Leu) rs1554853840
NM_001363118.2(SLC52A2):c.144C>G (p.Pro48=) rs1554853841
NM_001363118.2(SLC52A2):c.145T>C (p.Ser49Pro) rs1818690648
NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter) rs782095095
NM_001363118.2(SLC52A2):c.150C>T (p.Tyr50=) rs782361124
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.159G>C (p.Val53=)
NM_001363118.2(SLC52A2):c.164T>C (p.Val55Ala) rs1554853854
NM_001363118.2(SLC52A2):c.174G>A (p.Gly58=)
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.192G>C (p.Val64=) rs201246554
NM_001363118.2(SLC52A2):c.192G>T (p.Val64=) rs201246554
NM_001363118.2(SLC52A2):c.193G>A (p.Val65Met) rs2130637925
NM_001363118.2(SLC52A2):c.198C>T (p.Thr66=)
NM_001363118.2(SLC52A2):c.209G>A (p.Arg70Lys) rs1818697851
NM_001363118.2(SLC52A2):c.214G>A (p.Ala72Thr)
NM_001363118.2(SLC52A2):c.216C>T (p.Ala72=)
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.231G>A (p.Glu77=)
NM_001363118.2(SLC52A2):c.243C>T (p.Ile81=)
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.279_283del (p.Leu94fs) rs2130638836
NM_001363118.2(SLC52A2):c.280C>G (p.Leu94Val) rs1586553484
NM_001363118.2(SLC52A2):c.282G>T (p.Leu94=)
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.292_293del (p.Leu98fs)
NM_001363118.2(SLC52A2):c.303T>C (p.His101=)
NM_001363118.2(SLC52A2):c.308C>T (p.Ala103Val) rs1818709257
NM_001363118.2(SLC52A2):c.317C>T (p.Ala106Val)
NM_001363118.2(SLC52A2):c.318A>G (p.Ala106=)
NM_001363118.2(SLC52A2):c.319G>A (p.Gly107Arg) rs1330914046
NM_001363118.2(SLC52A2):c.327dup (p.His110fs)
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.342C>T (p.Phe114=) rs1586553825
NM_001363118.2(SLC52A2):c.343T>C (p.Leu115=) rs1586553840
NM_001363118.2(SLC52A2):c.346G>A (p.Ala116Thr) rs1554853918
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363118.2(SLC52A2):c.353C>T (p.Ala118Val) rs117500243
NM_001363118.2(SLC52A2):c.363G>C (p.Leu121=) rs1554853933
NM_001363118.2(SLC52A2):c.36C>T (p.Thr12=) rs1200985633
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.402CTT[1] (p.Phe135del) rs1337709383
NM_001363118.2(SLC52A2):c.414C>T (p.His138=) rs782420706
NM_001363118.2(SLC52A2):c.415C>T (p.Leu139=) rs1554853955
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.444C>T (p.Phe148=)
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.453A>G (p.Gln151=)
NM_001363118.2(SLC52A2):c.456C>T (p.Gly152=)
NM_001363118.2(SLC52A2):c.465C>T (p.Ala155=)
NM_001363118.2(SLC52A2):c.466C>G (p.Leu156Val)
NM_001363118.2(SLC52A2):c.466C>T (p.Leu156=) rs1554853980
NM_001363118.2(SLC52A2):c.471G>C (p.Leu157=)
NM_001363118.2(SLC52A2):c.477C>T (p.Cys159=)
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.525C>A (p.Ala175=) rs1818735284
NM_001363118.2(SLC52A2):c.540C>T (p.Thr180=) rs782708300
NM_001363118.2(SLC52A2):c.543del (p.Gly182fs)
NM_001363118.2(SLC52A2):c.549C>T (p.Pro183=)
NM_001363118.2(SLC52A2):c.54_55del (p.Phe19fs)
NM_001363118.2(SLC52A2):c.550C>T (p.Pro184Ser)
NM_001363118.2(SLC52A2):c.551del (p.Pro184fs) rs1554854044
NM_001363118.2(SLC52A2):c.552G>A (p.Pro184=) rs781807710
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.567G>A (p.Glu189=)
NM_001363118.2(SLC52A2):c.580_581inv (p.Ser194Leu)
NM_001363118.2(SLC52A2):c.587TCT[1] (p.Phe197del) rs781879748
NM_001363118.2(SLC52A2):c.591C>T (p.Phe197=) rs1554854078
NM_001363118.2(SLC52A2):c.593G>A (p.Trp198Ter) rs1818749427
NM_001363118.2(SLC52A2):c.595del (p.Ala199fs)
NM_001363118.2(SLC52A2):c.596C>T (p.Ala199Val) rs2130642900
NM_001363118.2(SLC52A2):c.597A>C (p.Ala199=)
NM_001363118.2(SLC52A2):c.608T>C (p.Leu203Pro)
NM_001363118.2(SLC52A2):c.610C>A (p.Leu204Met) rs369895693
NM_001363118.2(SLC52A2):c.612G>C (p.Leu204=) rs1187056563
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.651G>T (p.Leu217=) rs782164243
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.660A>C (p.Pro220=)
NM_001363118.2(SLC52A2):c.669T>C (p.Ser223=) rs1554854127
NM_001363118.2(SLC52A2):c.681G>A (p.Gly227=) rs782456223
NM_001363118.2(SLC52A2):c.684G>A (p.Glu228=)
NM_001363118.2(SLC52A2):c.68C>A (p.Ser23Tyr) rs1564653909
NM_001363118.2(SLC52A2):c.690A>C (p.Gly230=) rs1818762760
NM_001363118.2(SLC52A2):c.693A>G (p.Ser231=) rs1554854139
NM_001363118.2(SLC52A2):c.698T>C (p.Leu233Pro)
NM_001363118.2(SLC52A2):c.700C>T (p.Gln234Ter) rs797045200
NM_001363118.2(SLC52A2):c.702G>A (p.Gln234=) rs1818764297
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.738G>A (p.Glu246=)
NM_001363118.2(SLC52A2):c.748C>T (p.Leu250=)
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.780C>T (p.Thr260=)
NM_001363118.2(SLC52A2):c.781A>T (p.Thr261Ser) rs915304756
NM_001363118.2(SLC52A2):c.782C>G (p.Thr261Ser)
NM_001363118.2(SLC52A2):c.783C>G (p.Thr261=) rs1281874988
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.814C>T (p.Leu272=)
NM_001363118.2(SLC52A2):c.816A>G (p.Leu272=) rs1225050598
NM_001363118.2(SLC52A2):c.818C>T (p.Ser273Leu) rs532053820
NM_001363118.2(SLC52A2):c.824G>A (p.Arg275His) rs144912258
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.844C>T (p.Leu282=)
NM_001363118.2(SLC52A2):c.851C>A (p.Ala284Asp) rs398123067
NM_001363118.2(SLC52A2):c.858C>T (p.Thr286=)
NM_001363118.2(SLC52A2):c.867G>A (p.Leu289=) rs2130646355
NM_001363118.2(SLC52A2):c.87G>T (p.Gly29=) rs782390536
NM_001363118.2(SLC52A2):c.888C>A (p.Ala296=) rs375399467
NM_001363118.2(SLC52A2):c.889G>T (p.Val297Leu) rs782725706
NM_001363118.2(SLC52A2):c.902C>T (p.Ser301Phe)
NM_001363118.2(SLC52A2):c.903C>T (p.Ser301=) rs782631231
NM_001363118.2(SLC52A2):c.911C>T (p.Pro304Leu) rs2130646783
NM_001363118.2(SLC52A2):c.916G>T (p.Gly306Trp) rs398124641
NM_001363118.2(SLC52A2):c.919C>T (p.Arg307Cys) rs781996408
NM_001363118.2(SLC52A2):c.922C>T (p.Leu308=) rs782731667
NM_001363118.2(SLC52A2):c.926C>T (p.Ala309Val) rs1554854307
NM_001363118.2(SLC52A2):c.940G>A (p.Val314Met)
NM_001363118.2(SLC52A2):c.945G>T (p.Val315=)
NM_001363118.2(SLC52A2):c.955G>A (p.Ala319Thr)
NM_001363118.2(SLC52A2):c.957T>C (p.Ala319=)
NM_001363118.2(SLC52A2):c.962A>G (p.Asn321Ser) rs540314261
NM_001363118.2(SLC52A2):c.973T>C (p.Cys325Arg) rs1554854341
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly) rs1554854341
NM_001363118.2(SLC52A2):c.978C>T (p.Phe326=) rs1272142641
NM_001363118.2(SLC52A2):c.979C>T (p.Leu327=) rs371669411
NM_001363118.2(SLC52A2):c.989G>T (p.Gly330Val) rs782177542

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