ClinVar Miner

List of variants reported as likely benign for Biotin-responsive basal ganglia disease by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00097
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025 0.00073
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_025243.4(SLC19A3):c.987G>A (p.Val329=) rs146636922 0.00061
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186 0.00041
NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile) rs147502239 0.00036
NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val) rs142166552 0.00034
NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val) rs146949876 0.00026
NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn) rs138839321 0.00022
NM_025243.4(SLC19A3):c.387C>T (p.Ser129=) rs143579160 0.00022
NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val) rs372637185 0.00019
NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser) rs116533505 0.00019
NM_025243.4(SLC19A3):c.870A>G (p.Ala290=) rs141190841 0.00019
NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr) rs754794859 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=) rs375099581 0.00007
NM_025243.4(SLC19A3):c.901A>G (p.Ile301Val) rs199513368 0.00007
NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala) rs201544540 0.00006
NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser) rs200971390 0.00006
NM_025243.4(SLC19A3):c.941T>C (p.Ile314Thr) rs746794574 0.00006
NM_025243.4(SLC19A3):c.1314+11A>G rs985701788 0.00004
NM_025243.4(SLC19A3):c.745C>T (p.Leu249=) rs143662945 0.00004
NM_025243.4(SLC19A3):c.1113G>A (p.Ala371=) rs573958395 0.00003
NM_025243.4(SLC19A3):c.228T>C (p.Tyr76=) rs745370201 0.00003
NM_025243.4(SLC19A3):c.366C>T (p.Ala122=) rs548635197 0.00003
NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn) rs201274864 0.00003
NM_025243.4(SLC19A3):c.1071C>T (p.Ala357=) rs957778131 0.00001
NM_025243.4(SLC19A3):c.1104T>C (p.Asn368=) rs767338710 0.00001
NM_025243.4(SLC19A3):c.1137C>T (p.Phe379=) rs1465499049 0.00001
NM_025243.4(SLC19A3):c.1140G>A (p.Lys380=) rs769558150 0.00001
NM_025243.4(SLC19A3):c.1143C>T (p.Ser381=) rs745347172 0.00001
NM_025243.4(SLC19A3):c.1245G>A (p.Leu415=) rs1213616391 0.00001
NM_025243.4(SLC19A3):c.1315-4C>A rs758218592 0.00001
NM_025243.4(SLC19A3):c.1383C>T (p.Thr461=) rs770099619 0.00001
NM_025243.4(SLC19A3):c.1461G>A (p.Glu487=) rs750094260 0.00001
NM_025243.4(SLC19A3):c.1467T>C (p.Asn489=) rs761383691 0.00001
NM_025243.4(SLC19A3):c.222C>T (p.Thr74=) rs1311796221 0.00001
NM_025243.4(SLC19A3):c.225T>C (p.Asp75=) rs886044447 0.00001
NM_025243.4(SLC19A3):c.291G>C (p.Leu97=) rs774166957 0.00001
NM_025243.4(SLC19A3):c.327A>G (p.Val109=) rs961855863 0.00001
NM_025243.4(SLC19A3):c.351C>T (p.Thr117=) rs754025610 0.00001
NM_025243.4(SLC19A3):c.447C>G (p.Ala149=) rs1574559863 0.00001
NM_025243.4(SLC19A3):c.519C>T (p.Asn173=) rs765070607 0.00001
NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn) rs773705000 0.00001
NM_025243.4(SLC19A3):c.825A>C (p.Ser275=) rs757058630 0.00001
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) rs764867524 0.00001
NM_025243.4(SLC19A3):c.924A>G (p.Pro308=) rs1251453438 0.00001
NM_025243.4(SLC19A3):c.972C>A (p.Thr324=) rs1695542867 0.00001
NM_025243.4(SLC19A3):c.979+15C>T rs753469461 0.00001
NM_025243.4(SLC19A3):c.980-8T>C rs1202536336 0.00001
NM_025243.4(SLC19A3):c.999A>G (p.Ala333=) rs772110523 0.00001
NM_025243.4(SLC19A3):c.1002G>T (p.Val334=) rs2106326071
NM_025243.4(SLC19A3):c.1005T>C (p.Gly335=)
NM_025243.4(SLC19A3):c.1020C>T (p.Asn340=)
NM_025243.4(SLC19A3):c.102C>T (p.Phe34=)
NM_025243.4(SLC19A3):c.1053C>T (p.Val351=)
NM_025243.4(SLC19A3):c.105T>C (p.Leu35=) rs1193993220
NM_025243.4(SLC19A3):c.1080A>G (p.Leu360=)
NM_025243.4(SLC19A3):c.1101C>A (p.Ala367=)
NM_025243.4(SLC19A3):c.111A>G (p.Pro37=)
NM_025243.4(SLC19A3):c.1129T>C (p.Leu377=)
NM_025243.4(SLC19A3):c.1131G>A (p.Leu377=)
NM_025243.4(SLC19A3):c.1170A>C (p.Ala390=)
NM_025243.4(SLC19A3):c.1172+14A>G
NM_025243.4(SLC19A3):c.1172+9T>A rs1553570424
NM_025243.4(SLC19A3):c.1173-12G>A
NM_025243.4(SLC19A3):c.1173-14A>G
NM_025243.4(SLC19A3):c.1173-17T>C
NM_025243.4(SLC19A3):c.1173-19T>A
NM_025243.4(SLC19A3):c.1173-4A>G rs367737262
NM_025243.4(SLC19A3):c.1173-4A>T rs367737262
NM_025243.4(SLC19A3):c.1173-6T>C
NM_025243.4(SLC19A3):c.1173-8A>G
NM_025243.4(SLC19A3):c.117A>G (p.Leu39=)
NM_025243.4(SLC19A3):c.1197T>C (p.Asn399=)
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) rs150523975
NM_025243.4(SLC19A3):c.1230C>T (p.Asn410=) rs1574542050
NM_025243.4(SLC19A3):c.1233C>T (p.Thr411=)
NM_025243.4(SLC19A3):c.1236T>C (p.Phe412=)
NM_025243.4(SLC19A3):c.1254G>A (p.Gln418=) rs1559242391
NM_025243.4(SLC19A3):c.1272T>C (p.Ile424=)
NM_025243.4(SLC19A3):c.1297T>C (p.Leu433=)
NM_025243.4(SLC19A3):c.1302A>G (p.Pro434=)
NM_025243.4(SLC19A3):c.1314+20T>C rs2106318065
NM_025243.4(SLC19A3):c.1314+7T>C
NM_025243.4(SLC19A3):c.1314+9C>T rs2106318081
NM_025243.4(SLC19A3):c.1315-14T>C
NM_025243.4(SLC19A3):c.1315-16A>G
NM_025243.4(SLC19A3):c.1315-7T>C rs781452199
NM_025243.4(SLC19A3):c.1329G>A (p.Gly443=)
NM_025243.4(SLC19A3):c.1335T>C (p.Tyr445=)
NM_025243.4(SLC19A3):c.1347T>C (p.Ile449=)
NM_025243.4(SLC19A3):c.1380T>A (p.Ile460=)
NM_025243.4(SLC19A3):c.1383C>G (p.Thr461=) rs770099619
NM_025243.4(SLC19A3):c.1392C>A (p.Thr464=)
NM_025243.4(SLC19A3):c.1398C>T (p.Ser466=)
NM_025243.4(SLC19A3):c.1407T>C (p.Asp469=)
NM_025243.4(SLC19A3):c.1410A>T (p.Val470=)
NM_025243.4(SLC19A3):c.141C>A (p.Thr47=) rs145710386
NM_025243.4(SLC19A3):c.141C>T (p.Thr47=) rs145710386
NM_025243.4(SLC19A3):c.1425A>C (p.Pro475=)
NM_025243.4(SLC19A3):c.1425A>G (p.Pro475=)
NM_025243.4(SLC19A3):c.1440T>C (p.Asp480=) rs1695058030
NM_025243.4(SLC19A3):c.1449C>T (p.His483=) rs1574540382
NM_025243.4(SLC19A3):c.1464T>C (p.Ser488=)
NM_025243.4(SLC19A3):c.1482A>C (p.Thr494=)
NM_025243.4(SLC19A3):c.1488C>T (p.Leu496=)
NM_025243.4(SLC19A3):c.150+11A>G
NM_025243.4(SLC19A3):c.150+15A>G
NM_025243.4(SLC19A3):c.150+19A>G rs1369870143
NM_025243.4(SLC19A3):c.151-20G>C
NM_025243.4(SLC19A3):c.151-7T>C
NM_025243.4(SLC19A3):c.171C>G (p.Pro57=) rs765236061
NM_025243.4(SLC19A3):c.171C>T (p.Pro57=) rs765236061
NM_025243.4(SLC19A3):c.180A>G (p.Thr60=)
NM_025243.4(SLC19A3):c.183C>T (p.Tyr61=)
NM_025243.4(SLC19A3):c.186C>G (p.Ser62=)
NM_025243.4(SLC19A3):c.18T>C (p.Thr6=) rs141093593
NM_025243.4(SLC19A3):c.190C>T (p.Leu64=)
NM_025243.4(SLC19A3):c.198G>A (p.Leu66=)
NM_025243.4(SLC19A3):c.210G>A (p.Val70=)
NM_025243.4(SLC19A3):c.21A>T (p.Ser7=)
NM_025243.4(SLC19A3):c.243A>G (p.Pro81=)
NM_025243.4(SLC19A3):c.24A>T (p.Leu8=) rs150295425
NM_025243.4(SLC19A3):c.253T>C (p.Leu85=)
NM_025243.4(SLC19A3):c.306A>C (p.Gly102=)
NM_025243.4(SLC19A3):c.324T>C (p.Val108=)
NM_025243.4(SLC19A3):c.327A>C (p.Val109=) rs961855863
NM_025243.4(SLC19A3):c.330G>A (p.Glu110=)
NM_025243.4(SLC19A3):c.354C>T (p.Ala118=)
NM_025243.4(SLC19A3):c.357C>A (p.Ala119=) rs753565626
NM_025243.4(SLC19A3):c.357C>T (p.Ala119=) rs753565626
NM_025243.4(SLC19A3):c.372C>T (p.Tyr124=)
NM_025243.4(SLC19A3):c.375C>T (p.Ala125=) rs1405387596
NM_025243.4(SLC19A3):c.378C>T (p.Tyr126=)
NM_025243.4(SLC19A3):c.390G>A (p.Val130=)
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.399C>T (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.405C>T (p.His135=)
NM_025243.4(SLC19A3):c.417G>C (p.Val139=) rs1044896328
NM_025243.4(SLC19A3):c.420C>T (p.Ser140=) rs1269159709
NM_025243.4(SLC19A3):c.447C>T (p.Ala149=)
NM_025243.4(SLC19A3):c.456A>G (p.Thr152=)
NM_025243.4(SLC19A3):c.45C>G (p.Pro15=)
NM_025243.4(SLC19A3):c.486A>G (p.Val162=)
NM_025243.4(SLC19A3):c.504G>A (p.Ser168=)
NM_025243.4(SLC19A3):c.510T>C (p.Phe170=)
NM_025243.4(SLC19A3):c.513C>T (p.Tyr171=) rs1353757275
NM_025243.4(SLC19A3):c.516C>G (p.Leu172=)
NM_025243.4(SLC19A3):c.534C>A (p.Ala178=)
NM_025243.4(SLC19A3):c.534C>T (p.Ala178=)
NM_025243.4(SLC19A3):c.543C>T (p.Ser181=) rs1695567958
NM_025243.4(SLC19A3):c.54C>T (p.Ile18=) rs2106332696
NM_025243.4(SLC19A3):c.552C>T (p.Phe184=)
NM_025243.4(SLC19A3):c.564T>C (p.Leu188=)
NM_025243.4(SLC19A3):c.57C>G (p.Leu19=) rs1553572684
NM_025243.4(SLC19A3):c.582G>A (p.Lys194=) rs754828557
NM_025243.4(SLC19A3):c.636C>T (p.Ser212=)
NM_025243.4(SLC19A3):c.639G>C (p.Val213=)
NM_025243.4(SLC19A3):c.63A>G (p.Leu21=)
NM_025243.4(SLC19A3):c.645A>G (p.Pro215=)
NM_025243.4(SLC19A3):c.648A>G (p.Val216=)
NM_025243.4(SLC19A3):c.651A>G (p.Leu217=)
NM_025243.4(SLC19A3):c.663C>T (p.His221=)
NM_025243.4(SLC19A3):c.675A>G (p.Ala225=)
NM_025243.4(SLC19A3):c.690G>A (p.Glu230=) rs2106328841
NM_025243.4(SLC19A3):c.69T>C (p.Gly23=)
NM_025243.4(SLC19A3):c.705A>G (p.Ser235=)
NM_025243.4(SLC19A3):c.717C>T (p.Ser239=)
NM_025243.4(SLC19A3):c.723A>G (p.Ser241=)
NM_025243.4(SLC19A3):c.730C>T (p.Leu244=)
NM_025243.4(SLC19A3):c.732G>A (p.Leu244=)
NM_025243.4(SLC19A3):c.744G>A (p.Gln248=)
NM_025243.4(SLC19A3):c.754C>T (p.Leu252=)
NM_025243.4(SLC19A3):c.765C>T (p.Ser255=)
NM_025243.4(SLC19A3):c.771G>C (p.Val257=)
NM_025243.4(SLC19A3):c.779A>T (p.Asp260Val) rs371155923
NM_025243.4(SLC19A3):c.780C>T (p.Asp260=)
NM_025243.4(SLC19A3):c.786T>C (p.Phe262=)
NM_025243.4(SLC19A3):c.78C>G (p.Ser26=) rs2106332666
NM_025243.4(SLC19A3):c.78C>T (p.Ser26=) rs2106332666
NM_025243.4(SLC19A3):c.805T>C (p.Leu269=) rs2106328713
NM_025243.4(SLC19A3):c.816C>T (p.Cys272=) rs2106328711
NM_025243.4(SLC19A3):c.819C>T (p.Tyr273=) rs1574558841
NM_025243.4(SLC19A3):c.825A>G (p.Ser275=) rs757058630
NM_025243.4(SLC19A3):c.849A>C (p.Leu283=)
NM_025243.4(SLC19A3):c.870A>C (p.Ala290=)
NM_025243.4(SLC19A3):c.894T>C (p.Tyr298=)
NM_025243.4(SLC19A3):c.906G>C (p.Leu302=)
NM_025243.4(SLC19A3):c.921G>A (p.Ala307=)
NM_025243.4(SLC19A3):c.942C>A (p.Ile314=)
NM_025243.4(SLC19A3):c.951G>A (p.Gly317=)
NM_025243.4(SLC19A3):c.957A>G (p.Val319=) rs1230756352
NM_025243.4(SLC19A3):c.972C>T (p.Thr324=)
NM_025243.4(SLC19A3):c.979+10T>C
NM_025243.4(SLC19A3):c.979+11G>A
NM_025243.4(SLC19A3):c.979+15C>G
NM_025243.4(SLC19A3):c.979+8A>C
NM_025243.4(SLC19A3):c.979+9A>G rs1553571168
NM_025243.4(SLC19A3):c.980-10T>C rs750918156
NM_025243.4(SLC19A3):c.980-10T>G
NM_025243.4(SLC19A3):c.980-14A>T
NM_025243.4(SLC19A3):c.980-15A>G
NM_025243.4(SLC19A3):c.980-19C>T
NM_025243.4(SLC19A3):c.980-21_980-17dup
NM_025243.4(SLC19A3):c.980-9T>G
NM_025243.4(SLC19A3):c.981G>T (p.Gly327=)
NM_025243.4(SLC19A3):c.990T>G (p.Ala330=)
NM_025243.4(SLC19A3):c.993C>T (p.Ala331=)

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