ClinVar Miner

List of variants in gene combination CHAT, SLC18A3

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Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu) rs8187730 0.99621
NM_003055.3(SLC18A3):c.*39G>T rs2269338 0.12794
NM_003055.3(SLC18A3):c.396T>C (p.Ala132=) rs8175353 0.02533
NM_003055.3(SLC18A3):c.1584C>T (p.Tyr528=) rs77758906 0.01563
NM_003055.3(SLC18A3):c.636T>C (p.Arg212=) rs8187727 0.00491
NM_003055.3(SLC18A3):c.37G>C (p.Ala13Pro) rs8187733 0.00357
NM_003055.3(SLC18A3):c.615G>C (p.Pro205=) rs8187726 0.00357
NM_003055.3(SLC18A3):c.927A>G (p.Glu309=) rs8187729 0.00357
NM_003055.3(SLC18A3):c.1125C>G (p.Pro375=) rs35838405 0.00338
NM_003055.3(SLC18A3):c.85C>T (p.Arg29Trp) rs8187734 0.00207
NM_003055.3(SLC18A3):c.32G>A (p.Arg11Gln) rs8187732 0.00062
NM_003055.3(SLC18A3):c.1126G>T (p.Ala376Ser) rs149604765 0.00034
NM_003055.3(SLC18A3):c.208G>A (p.Gly70Ser) rs758567871 0.00030
NM_003055.3(SLC18A3):c.1276A>G (p.Ile426Val) rs118107581 0.00019
NM_003055.3(SLC18A3):c.781G>C (p.Ala261Pro) rs139732053 0.00019
NM_003055.3(SLC18A3):c.1035C>G (p.Thr345=) rs138830933 0.00016
NM_003055.3(SLC18A3):c.1451T>C (p.Val484Ala) rs142761243 0.00016
NM_003055.3(SLC18A3):c.183C>G (p.Ile61Met) rs77672173 0.00016
NM_003055.3(SLC18A3):c.825C>T (p.Asn275=) rs145315435 0.00016
NM_003055.3(SLC18A3):c.1479G>A (p.Leu493=) rs376281494 0.00015
NM_003055.3(SLC18A3):c.1030C>G (p.Leu344Val) rs78571038 0.00014
NM_003055.3(SLC18A3):c.1531C>T (p.Pro511Ser) rs139485937 0.00012
NM_003055.3(SLC18A3):c.715G>T (p.Ala239Ser) rs775213086 0.00012
NM_003055.3(SLC18A3):c.924C>A (p.Leu308=) rs200094927 0.00010
NM_003055.3(SLC18A3):c.323G>C (p.Gly108Ala) rs1351649261 0.00009
NM_003055.3(SLC18A3):c.1078G>T (p.Gly360Cys) rs200313362 0.00006
NM_003055.3(SLC18A3):c.1500T>C (p.Arg500=) rs200368763 0.00006
NM_003055.3(SLC18A3):c.1595G>A (p.Ser532Asn) rs374783600 0.00006
NM_003055.3(SLC18A3):c.915C>A (p.Leu305=) rs8187728 0.00006
NM_003055.3(SLC18A3):c.687G>T (p.Pro229=) rs755075120 0.00004
NM_003055.3(SLC18A3):c.1132C>A (p.Arg378Ser) rs1485782219 0.00002
NM_003055.3(SLC18A3):c.1453C>T (p.Leu485=) rs376743590 0.00002
NM_003055.3(SLC18A3):c.1455G>A (p.Leu485=) rs751093639 0.00002
NM_003055.3(SLC18A3):c.510C>A (p.Ala170=) rs750306476 0.00002
NM_003055.3(SLC18A3):c.515C>T (p.Ala172Val) rs754500673 0.00002
NM_003055.3(SLC18A3):c.543G>T (p.Ala181=) rs745946207 0.00002
NM_003055.3(SLC18A3):c.646G>T (p.Val216Leu) rs140414320 0.00002
NM_003055.3(SLC18A3):c.1143G>T (p.Ala381=) rs777864075 0.00001
NM_003055.3(SLC18A3):c.1163G>A (p.Cys388Tyr) rs1338961287 0.00001
NM_003055.3(SLC18A3):c.1206G>T (p.Leu402=) rs1838309883 0.00001
NM_003055.3(SLC18A3):c.1302C>G (p.Leu434=) rs748705960 0.00001
NM_003055.3(SLC18A3):c.1308C>T (p.Pro436=) rs1838313296 0.00001
NM_003055.3(SLC18A3):c.1445G>A (p.Arg482His) rs558868462 0.00001
NM_003055.3(SLC18A3):c.151A>G (p.Met51Val) rs1016793644 0.00001
NM_003055.3(SLC18A3):c.1564G>A (p.Glu522Lys) rs1188732382 0.00001
NM_003055.3(SLC18A3):c.261G>A (p.Pro87=) rs773239597 0.00001
NM_003055.3(SLC18A3):c.280A>G (p.Thr94Ala) rs1838279783 0.00001
NM_003055.3(SLC18A3):c.302C>T (p.Pro101Leu) rs538442914 0.00001
NM_003055.3(SLC18A3):c.329C>A (p.Ala110Asp) rs1018008774 0.00001
NM_003055.3(SLC18A3):c.385G>T (p.Ala129Ser) rs765251455 0.00001
NM_003055.3(SLC18A3):c.392A>G (p.Lys131Arg) rs892469870 0.00001
NM_003055.3(SLC18A3):c.393G>A (p.Lys131=) rs757816248 0.00001
NM_003055.3(SLC18A3):c.443G>T (p.Arg148Leu) rs1242707628 0.00001
NM_003055.3(SLC18A3):c.524A>G (p.Tyr175Cys) rs994097455 0.00001
NM_003055.3(SLC18A3):c.525C>T (p.Tyr175=) rs375171478 0.00001
NM_003055.3(SLC18A3):c.534G>A (p.Leu178=) rs749642076 0.00001
NM_003055.3(SLC18A3):c.642G>A (p.Leu214=) rs759417045 0.00001
NM_003055.3(SLC18A3):c.651G>A (p.Ala217=) rs760191637 0.00001
NM_003055.3(SLC18A3):c.682G>T (p.Ala228Ser) rs1391546879 0.00001
NM_003055.3(SLC18A3):c.708T>C (p.Tyr236=) rs1270083337 0.00001
NM_003055.3(SLC18A3):c.803C>A (p.Ala268Glu) rs752851633 0.00001
NM_003055.3(SLC18A3):c.855C>T (p.Leu285=) rs551042891 0.00001
NM_003055.3(SLC18A3):c.999G>A (p.Pro333=) rs1323911631 0.00001
NC_000010.10:g.(?_50818787)_(50824668_?)dup
NC_000010.10:g.(?_50818787)_(50873092_?)del
NC_000010.10:g.(?_50818787)_(50873092_?)dup
NM_003055.3(SLC18A3):c.1033A>G (p.Thr345Ala)
NM_003055.3(SLC18A3):c.1034C>T (p.Thr345Ile)
NM_003055.3(SLC18A3):c.1040G>T (p.Arg347Leu) rs913755733
NM_003055.3(SLC18A3):c.1044G>A (p.Leu348=) rs1404084769
NM_003055.3(SLC18A3):c.1049C>T (p.Ala350Val)
NM_003055.3(SLC18A3):c.1063C>G (p.Leu355Val)
NM_003055.3(SLC18A3):c.1063C>T (p.Leu355=)
NM_003055.3(SLC18A3):c.1074G>A (p.Leu358=)
NM_003055.3(SLC18A3):c.1076A>T (p.Tyr359Phe) rs866463543
NM_003055.3(SLC18A3):c.1083G>T (p.Ala361=)
NM_003055.3(SLC18A3):c.108T>A (p.Leu36=)
NM_003055.3(SLC18A3):c.1092G>C (p.Leu364=)
NM_003055.3(SLC18A3):c.1093G>C (p.Ala365Pro) rs1434365893
NM_003055.3(SLC18A3):c.1101C>T (p.Ile367=) rs2132688096
NM_003055.3(SLC18A3):c.1102G>A (p.Gly368Ser)
NM_003055.3(SLC18A3):c.1109G>C (p.Ser370Thr)
NM_003055.3(SLC18A3):c.1109G>T (p.Ser370Ile)
NM_003055.3(SLC18A3):c.110T>C (p.Val37Ala) rs2132685670
NM_003055.3(SLC18A3):c.1113G>T (p.Ser371=) rs1360779629
NM_003055.3(SLC18A3):c.1116C>A (p.Cys372Ter)
NM_003055.3(SLC18A3):c.1122G>C (p.Val374=)
NM_003055.3(SLC18A3):c.112A>T (p.Ile38Phe) rs1838273857
NM_003055.3(SLC18A3):c.114C>T (p.Ile38=)
NM_003055.3(SLC18A3):c.1153G>A (p.Val385Ile)
NM_003055.3(SLC18A3):c.1155C>T (p.Val385=)
NM_003055.3(SLC18A3):c.1164C>T (p.Cys388=)
NM_003055.3(SLC18A3):c.1185C>A (p.Ala395=) rs1215490692
NM_003055.3(SLC18A3):c.1185C>T (p.Ala395=) rs1215490692
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His) rs1057517666
NM_003055.3(SLC18A3):c.11C>G (p.Ala4Gly)
NM_003055.3(SLC18A3):c.1200A>T (p.Ala400=) rs1243378683
NM_003055.3(SLC18A3):c.1210A>G (p.Thr404Ala)
NM_003055.3(SLC18A3):c.1212G>T (p.Thr404=)
NM_003055.3(SLC18A3):c.1215C>T (p.Leu405=)
NM_003055.3(SLC18A3):c.1230C>T (p.Asp410=)
NM_003055.3(SLC18A3):c.1232T>C (p.Val411Ala)
NM_003055.3(SLC18A3):c.1235G>A (p.Arg412His) rs766544544
NM_003055.3(SLC18A3):c.1240G>A (p.Val414Ile) rs2132688450
NM_003055.3(SLC18A3):c.1248C>G (p.Val416=)
NM_003055.3(SLC18A3):c.1251T>C (p.Tyr417=)
NM_003055.3(SLC18A3):c.1293C>T (p.Ala431=) rs1838312632
NM_003055.3(SLC18A3):c.1296C>T (p.Tyr432=)
NM_003055.3(SLC18A3):c.1299G>C (p.Ala433=)
NM_003055.3(SLC18A3):c.1299G>T (p.Ala433=)
NM_003055.3(SLC18A3):c.12G>A (p.Ala4=)
NM_003055.3(SLC18A3):c.1302C>A (p.Leu434=)
NM_003055.3(SLC18A3):c.1329G>A (p.Val443=) rs2132688687
NM_003055.3(SLC18A3):c.1344T>A (p.Phe448Leu)
NM_003055.3(SLC18A3):c.1379T>C (p.Leu460Pro) rs2132688808
NM_003055.3(SLC18A3):c.137A>G (p.Asp46Gly) rs1325736326
NM_003055.3(SLC18A3):c.1392C>G (p.Pro464=)
NM_003055.3(SLC18A3):c.1408C>T (p.Arg470Cys)
NM_003055.3(SLC18A3):c.1414G>T (p.Val472Leu) rs778197467
NM_003055.3(SLC18A3):c.1435C>G (p.Arg479Gly) rs1290953438
NM_003055.3(SLC18A3):c.1436G>T (p.Arg479Leu)
NM_003055.3(SLC18A3):c.1461T>C (p.Asp487=) rs974690319
NM_003055.3(SLC18A3):c.1473A>C (p.Gln491His)
NM_003055.3(SLC18A3):c.1475G>A (p.Gly492Asp)
NM_003055.3(SLC18A3):c.1504C>G (p.Arg502Gly) rs769518248
NM_003055.3(SLC18A3):c.1510G>A (p.Val504Met)
NM_003055.3(SLC18A3):c.1510G>T (p.Val504Leu)
NM_003055.3(SLC18A3):c.1524C>G (p.Asp508Glu)
NM_003055.3(SLC18A3):c.1526G>C (p.Gly509Ala) rs1838321419
NM_003055.3(SLC18A3):c.1541C>G (p.Pro514Arg) rs757770562
NM_003055.3(SLC18A3):c.1542G>A (p.Pro514=)
NM_003055.3(SLC18A3):c.1542G>C (p.Pro514=) rs1045968094
NM_003055.3(SLC18A3):c.1551T>G (p.Pro517=) rs2132689381
NM_003055.3(SLC18A3):c.1591C>T (p.Arg531Cys) rs148062083
NM_003055.3(SLC18A3):c.1592G>A (p.Arg531His)
NM_003055.3(SLC18A3):c.175G>A (p.Asp59Asn)
NM_003055.3(SLC18A3):c.177C>G (p.Asp59Glu)
NM_003055.3(SLC18A3):c.183C>T (p.Ile61=)
NM_003055.3(SLC18A3):c.193C>G (p.Arg65Gly)
NM_003055.3(SLC18A3):c.195C>T (p.Arg65=)
NM_003055.3(SLC18A3):c.216C>A (p.Thr72=) rs1235546648
NM_003055.3(SLC18A3):c.225C>T (p.Pro75=)
NM_003055.3(SLC18A3):c.238C>T (p.Pro80Ser)
NM_003055.3(SLC18A3):c.239C>T (p.Pro80Leu) rs778513207
NM_003055.3(SLC18A3):c.240C>T (p.Pro80=) rs2132685994
NM_003055.3(SLC18A3):c.244C>T (p.Leu82=)
NM_003055.3(SLC18A3):c.249G>A (p.Pro83=)
NM_003055.3(SLC18A3):c.249G>T (p.Pro83=) rs150436609
NM_003055.3(SLC18A3):c.279C>T (p.Tyr93=)
NM_003055.3(SLC18A3):c.288C>T (p.Asn96=)
NM_003055.3(SLC18A3):c.296C>G (p.Ala99Gly)
NM_003055.3(SLC18A3):c.318A>G (p.Pro106=)
NM_003055.3(SLC18A3):c.32G>T (p.Arg11Leu) rs8187732
NM_003055.3(SLC18A3):c.334C>T (p.Arg112Trp) rs1323111953
NM_003055.3(SLC18A3):c.347C>T (p.Pro116Leu)
NM_003055.3(SLC18A3):c.347del (p.Pro116fs) rs1554800550
NM_003055.3(SLC18A3):c.34_35delinsAG (p.Ala12Arg)
NM_003055.3(SLC18A3):c.351G>A (p.Thr117=) rs1258093533
NM_003055.3(SLC18A3):c.36G>A (p.Ala12=)
NM_003055.3(SLC18A3):c.379C>T (p.Leu127=)
NM_003055.3(SLC18A3):c.39G>A (p.Ala13=)
NM_003055.3(SLC18A3):c.418C>T (p.Pro140Ser)
NM_003055.3(SLC18A3):c.41C>A (p.Ala14Asp) rs199520651
NM_003055.3(SLC18A3):c.41C>T (p.Ala14Val) rs199520651
NM_003055.3(SLC18A3):c.428G>C (p.Gly143Ala) rs2132686426
NM_003055.3(SLC18A3):c.442C>T (p.Arg148Cys) rs201839613
NM_003055.3(SLC18A3):c.454G>T (p.Asp152Tyr)
NM_003055.3(SLC18A3):c.456C>A (p.Asp152Glu)
NM_003055.3(SLC18A3):c.46A>G (p.Lys16Glu) rs753971264
NM_003055.3(SLC18A3):c.479_480delinsTT (p.Gly160Val) rs2132686512
NM_003055.3(SLC18A3):c.513C>T (p.Phe171=)
NM_003055.3(SLC18A3):c.519G>A (p.Glu173=)
NM_003055.3(SLC18A3):c.530C>T (p.Thr177Met)
NM_003055.3(SLC18A3):c.534G>C (p.Leu178=) rs749642076
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_003055.3(SLC18A3):c.570C>T (p.Ala190=)
NM_003055.3(SLC18A3):c.591A>G (p.Ile197Met) rs774216202
NM_003055.3(SLC18A3):c.595A>C (p.Met199Leu) rs1446897176
NM_003055.3(SLC18A3):c.595A>G (p.Met199Val)
NM_003055.3(SLC18A3):c.599T>A (p.Ile200Asn) rs1554800621
NM_003055.3(SLC18A3):c.600C>T (p.Ile200=)
NM_003055.3(SLC18A3):c.603C>G (p.Ala201=) rs148566667
NM_003055.3(SLC18A3):c.604G>T (p.Asp202Tyr)
NM_003055.3(SLC18A3):c.623C>G (p.Pro208Arg)
NM_003055.3(SLC18A3):c.623C>T (p.Pro208Leu) rs374160245
NM_003055.3(SLC18A3):c.634C>A (p.Arg212Ser)
NM_003055.3(SLC18A3):c.634C>T (p.Arg212Cys)
NM_003055.3(SLC18A3):c.64G>A (p.Gly22Ser) rs141439763
NM_003055.3(SLC18A3):c.656C>A (p.Ala219Asp) rs2132686938
NM_003055.3(SLC18A3):c.661A>G (p.Ile221Val) rs2132686941
NM_003055.3(SLC18A3):c.669C>T (p.Phe223=)
NM_003055.3(SLC18A3):c.680T>C (p.Val227Ala) rs758934192
NM_003055.3(SLC18A3):c.704T>A (p.Leu235His)
NM_003055.3(SLC18A3):c.707A>G (p.Tyr236Cys)
NM_003055.3(SLC18A3):c.717C>T (p.Ala239=)
NM_003055.3(SLC18A3):c.718G>C (p.Gly240Arg) rs913848936
NM_003055.3(SLC18A3):c.727G>T (p.Val243Leu)
NM_003055.3(SLC18A3):c.741G>T (p.Val247=)
NM_003055.3(SLC18A3):c.765C>T (p.Asp255=)
NM_003055.3(SLC18A3):c.768G>A (p.Ala256=)
NM_003055.3(SLC18A3):c.769C>T (p.Leu257=)
NM_003055.3(SLC18A3):c.778C>A (p.Leu260Met)
NM_003055.3(SLC18A3):c.779T>A (p.Leu260Gln) rs1838295861
NM_003055.3(SLC18A3):c.781G>A (p.Ala261Thr) rs139732053
NM_003055.3(SLC18A3):c.788C>T (p.Ala263Val) rs1039568668
NM_003055.3(SLC18A3):c.794C>A (p.Pro265His)
NM_003055.3(SLC18A3):c.803C>T (p.Ala268Val)
NM_003055.3(SLC18A3):c.811C>A (p.Arg271=)
NM_003055.3(SLC18A3):c.816T>A (p.Ala272=) rs2132687364
NM_003055.3(SLC18A3):c.819G>C (p.Arg273=)
NM_003055.3(SLC18A3):c.820G>A (p.Ala274Thr) rs1838297655
NM_003055.3(SLC18A3):c.840T>A (p.Thr280=)
NM_003055.3(SLC18A3):c.841C>G (p.Pro281Ala)
NM_003055.3(SLC18A3):c.843C>G (p.Pro281=)
NM_003055.3(SLC18A3):c.848A>G (p.His283Arg) rs1365474666
NM_003055.3(SLC18A3):c.851G>A (p.Arg284His) rs2132687477
NM_003055.3(SLC18A3):c.854T>C (p.Leu285Pro)
NM_003055.3(SLC18A3):c.856A>G (p.Met286Val)
NM_003055.3(SLC18A3):c.861A>G (p.Leu287=) rs1564466482
NM_003055.3(SLC18A3):c.864C>T (p.Asp288=)
NM_003055.3(SLC18A3):c.866C>A (p.Pro289His) rs2132687513
NM_003055.3(SLC18A3):c.866C>T (p.Pro289Leu)
NM_003055.3(SLC18A3):c.867C>T (p.Pro289=)
NM_003055.3(SLC18A3):c.869A>G (p.Tyr290Cys)
NM_003055.3(SLC18A3):c.879_883del (p.Val294fs) rs2132687548
NM_003055.3(SLC18A3):c.88C>A (p.Arg30=) rs8187735
NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp) rs8187735
NM_003055.3(SLC18A3):c.90G>A (p.Arg30=) rs140489850
NM_003055.3(SLC18A3):c.915C>T (p.Leu305=) rs8187728
NM_003055.3(SLC18A3):c.916G>T (p.Ala306Ser)
NM_003055.3(SLC18A3):c.921C>G (p.Phe307Leu)
NM_003055.3(SLC18A3):c.932C>A (p.Thr311Asn) rs1296151247
NM_003055.3(SLC18A3):c.945G>A (p.Trp315Ter) rs1554800734
NM_003055.3(SLC18A3):c.949A>C (p.Lys317Gln)
NM_003055.3(SLC18A3):c.956C>G (p.Thr319Arg)
NM_003055.3(SLC18A3):c.957G>A (p.Thr319=)
NM_003055.3(SLC18A3):c.962C>A (p.Ala321Glu)
NM_003055.3(SLC18A3):c.972G>A (p.Glu324=)
NM_003055.3(SLC18A3):c.988G>T (p.Ala330Ser)
NM_003055.3(SLC18A3):c.9C>T (p.Ser3=)

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