ClinVar Miner

List of variants in gene SLC6A3 reported as likely benign for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350 0.05616
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=) rs142241083 0.00069
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=) rs115160598 0.00057
NM_001044.5(SLC6A3):c.78G>A (p.Pro26=) rs144264359 0.00057
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) rs8179034 0.00039
NM_001044.5(SLC6A3):c.1600-17G>A rs370345490 0.00035
NM_001044.5(SLC6A3):c.456C>T (p.Val152=) rs147399016 0.00034
NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg) rs115282473 0.00029
NM_001044.5(SLC6A3):c.1767+13A>G rs28363130 0.00026
NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn) rs200712598 0.00026
NM_001044.5(SLC6A3):c.1089C>T (p.Val363=) rs114461544 0.00024
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=) rs8179027 0.00022
NM_001044.5(SLC6A3):c.1032-14T>C rs375742593 0.00021
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=) rs114563841 0.00018
NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr) rs375720650 0.00016
NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=) rs115254960 0.00013
NM_001044.5(SLC6A3):c.653+14G>A rs374067917 0.00012
NM_001044.5(SLC6A3):c.385G>A (p.Ala129Thr) rs780852886 0.00011
NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln) rs6345 0.00011
NM_001044.5(SLC6A3):c.792+7C>T rs370881183 0.00010
NM_001044.5(SLC6A3):c.792+10G>A rs199702486 0.00009
NM_001044.5(SLC6A3):c.1600-18C>T rs761610559 0.00008
NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu) rs757417973 0.00008
NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=) rs769456530 0.00007
NM_001044.5(SLC6A3):c.969C>T (p.Gly323=) rs369950427 0.00007
NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=) rs111362222 0.00006
NM_001044.5(SLC6A3):c.1446G>A (p.Thr482=) rs750649054 0.00006
NM_001044.5(SLC6A3):c.1767+19C>T rs751182754 0.00006
NM_001044.5(SLC6A3):c.1839+8C>T rs533644928 0.00006
NM_001044.5(SLC6A3):c.330G>A (p.Gly110=) rs112801202 0.00006
NM_001044.5(SLC6A3):c.418+9C>T rs528589234 0.00006
NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=) rs777377892 0.00005
NM_001044.5(SLC6A3):c.928-18C>T rs373449776 0.00005
NM_001044.5(SLC6A3):c.1269+20C>T rs951684585 0.00004
NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=) rs777317571 0.00004
NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=) rs766191360 0.00004
NM_001044.5(SLC6A3):c.360C>T (p.Leu120=) rs148447720 0.00004
NM_001044.5(SLC6A3):c.495C>T (p.His165=) rs1052784707 0.00004
NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=) rs376593673 0.00004
NM_001044.5(SLC6A3):c.924G>A (p.Ala308=) rs530952208 0.00004
NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=) rs777700658 0.00003
NM_001044.5(SLC6A3):c.1269+16C>T rs750007484 0.00003
NM_001044.5(SLC6A3):c.201C>T (p.Ile67=) rs191426052 0.00003
NM_001044.5(SLC6A3):c.384C>T (p.Ala128=) rs771177632 0.00003
NM_001044.5(SLC6A3):c.939C>T (p.Asp313=) rs774707412 0.00003
NM_001044.5(SLC6A3):c.1270-10C>T rs756737267 0.00002
NM_001044.5(SLC6A3):c.1386C>T (p.Phe462=) rs765211329 0.00002
NM_001044.5(SLC6A3):c.1499-12C>G rs1048125664 0.00002
NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=) rs1264236301 0.00002
NM_001044.5(SLC6A3):c.287-16C>A rs752277056 0.00002
NM_001044.5(SLC6A3):c.42G>T (p.Val14=) rs767919132 0.00002
NM_001044.5(SLC6A3):c.471C>T (p.Asn157=) rs755940757 0.00002
NM_001044.5(SLC6A3):c.615C>T (p.Asn205=) rs764540812 0.00002
NM_001044.5(SLC6A3):c.642C>T (p.Ala214=) rs369766460 0.00002
NM_001044.5(SLC6A3):c.1110C>T (p.Tyr370=) rs146814731 0.00001
NM_001044.5(SLC6A3):c.1185G>A (p.Pro395=) rs372175437 0.00001
NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=) rs199564835 0.00001
NM_001044.5(SLC6A3):c.129C>T (p.Thr43=) rs1179801580 0.00001
NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=) rs762754512 0.00001
NM_001044.5(SLC6A3):c.1350C>T (p.Leu450=) rs1373372460 0.00001
NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=) rs764518683 0.00001
NM_001044.5(SLC6A3):c.1499-14C>T rs774641284 0.00001
NM_001044.5(SLC6A3):c.1599+13G>A rs763612604 0.00001
NM_001044.5(SLC6A3):c.1771C>T (p.Leu591=) rs376015219 0.00001
NM_001044.5(SLC6A3):c.1844G>A (p.Arg615His) rs750470875 0.00001
NM_001044.5(SLC6A3):c.216C>T (p.Ser72=) rs373050350 0.00001
NM_001044.5(SLC6A3):c.285C>T (p.Gly95=) rs201707183 0.00001
NM_001044.5(SLC6A3):c.375G>A (p.Arg125=) rs772708278 0.00001
NM_001044.5(SLC6A3):c.419-6C>T rs540824168 0.00001
NM_001044.5(SLC6A3):c.450G>A (p.Leu150=) rs757203667 0.00001
NM_001044.5(SLC6A3):c.48C>A (p.Ala16=) rs762569986 0.00001
NM_001044.5(SLC6A3):c.732G>C (p.Leu244=) rs771007893 0.00001
NM_001044.5(SLC6A3):c.915C>A (p.Leu305=) rs200732142 0.00001
NM_001044.5(SLC6A3):c.1032-17G>A
NM_001044.5(SLC6A3):c.1032-20G>A rs200430075
NM_001044.5(SLC6A3):c.1032-20G>C rs200430075
NM_001044.5(SLC6A3):c.1032-5T>C rs1208452818
NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=) rs562538093
NM_001044.5(SLC6A3):c.1083C>G (p.Gly361=)
NM_001044.5(SLC6A3):c.1104G>A (p.Leu368=)
NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=) rs759094634
NM_001044.5(SLC6A3):c.1131G>T (p.Val377=)
NM_001044.5(SLC6A3):c.1156+9C>T rs921062478
NM_001044.5(SLC6A3):c.1157-20C>G rs2126344195
NM_001044.5(SLC6A3):c.1161A>G (p.Pro387=)
NM_001044.5(SLC6A3):c.117A>G (p.Gly39=)
NM_001044.5(SLC6A3):c.1197C>G (p.Ala399=) rs1171195804
NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=) rs1553985998
NM_001044.5(SLC6A3):c.1251C>T (p.Thr417=)
NM_001044.5(SLC6A3):c.1260C>T (p.Ile420=)
NM_001044.5(SLC6A3):c.1266C>T (p.Ser422=)
NM_001044.5(SLC6A3):c.1269+12G>T
NM_001044.5(SLC6A3):c.1270-12C>T
NM_001044.5(SLC6A3):c.1270-19C>T
NM_001044.5(SLC6A3):c.1270-4G>A
NM_001044.5(SLC6A3):c.1293C>T (p.Ile431=) rs2126340135
NM_001044.5(SLC6A3):c.1299G>T (p.Gly433=) rs1480967154
NM_001044.5(SLC6A3):c.1305C>A (p.Ile435=)
NM_001044.5(SLC6A3):c.1305C>T (p.Ile435=) rs760545154
NM_001044.5(SLC6A3):c.132C>T (p.Ser44=)
NM_001044.5(SLC6A3):c.1347G>T (p.Thr449=) rs759854756
NM_001044.5(SLC6A3):c.1359C>T (p.Val453=) rs1399414786
NM_001044.5(SLC6A3):c.1371C>T (p.Phe457=) rs770479961
NM_001044.5(SLC6A3):c.1398+12C>T
NM_001044.5(SLC6A3):c.1398+13G>A
NM_001044.5(SLC6A3):c.1398+16G>A
NM_001044.5(SLC6A3):c.1398+5_1398+6dup rs2126339779
NM_001044.5(SLC6A3):c.1399-11C>T
NM_001044.5(SLC6A3):c.1399-19A>G
NM_001044.5(SLC6A3):c.1419G>A (p.Thr473=)
NM_001044.5(SLC6A3):c.147C>T (p.Asn49=)
NM_001044.5(SLC6A3):c.1485G>A (p.Val495=) rs1756052542
NM_001044.5(SLC6A3):c.1498+8C>T
NM_001044.5(SLC6A3):c.150G>A (p.Pro50=) rs6346
NM_001044.5(SLC6A3):c.1536C>T (p.Thr512=)
NM_001044.5(SLC6A3):c.1548C>T (p.Pro516=)
NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)
NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)
NM_001044.5(SLC6A3):c.1599+12C>G rs150170183
NM_001044.5(SLC6A3):c.1600-9_1600-8delinsCT rs2126324656
NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)
NM_001044.5(SLC6A3):c.162C>A (p.Pro54=)
NM_001044.5(SLC6A3):c.162C>G (p.Pro54=) rs6351
NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)
NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=) rs767241571
NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)
NM_001044.5(SLC6A3):c.1725T>C (p.Tyr575=) rs2126324184
NM_001044.5(SLC6A3):c.1767+14C>T
NM_001044.5(SLC6A3):c.1767+15G>A
NM_001044.5(SLC6A3):c.1767+16G>A
NM_001044.5(SLC6A3):c.1768-12T>C
NM_001044.5(SLC6A3):c.1768-7C>T rs2126319630
NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)
NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=) rs1310047234
NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)
NM_001044.5(SLC6A3):c.1806G>A (p.Glu602=) rs2126319427
NM_001044.5(SLC6A3):c.180G>T (p.Arg60=)
NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)
NM_001044.5(SLC6A3):c.1839+15C>T
NM_001044.5(SLC6A3):c.1839+9_1839+14del
NM_001044.5(SLC6A3):c.1840-8C>A rs755204020
NM_001044.5(SLC6A3):c.213G>A (p.Leu71=)
NM_001044.5(SLC6A3):c.21C>T (p.Ser7=)
NM_001044.5(SLC6A3):c.231T>C (p.Ala77=)
NM_001044.5(SLC6A3):c.246C>T (p.Asn82=)
NM_001044.5(SLC6A3):c.267G>A (p.Leu89=)
NM_001044.5(SLC6A3):c.286+10A>T
NM_001044.5(SLC6A3):c.286+16G>C
NM_001044.5(SLC6A3):c.286+18C>T
NM_001044.5(SLC6A3):c.286+8C>T
NM_001044.5(SLC6A3):c.287-13T>C rs2126412495
NM_001044.5(SLC6A3):c.287-20G>C
NM_001044.5(SLC6A3):c.287-5C>G
NM_001044.5(SLC6A3):c.287-5C>T
NM_001044.5(SLC6A3):c.287-6C>T
NM_001044.5(SLC6A3):c.418+16C>A
NM_001044.5(SLC6A3):c.419-12C>G
NM_001044.5(SLC6A3):c.419-16del
NM_001044.5(SLC6A3):c.419-5G>A
NM_001044.5(SLC6A3):c.419-5G>T
NM_001044.5(SLC6A3):c.432G>A (p.Thr144=)
NM_001044.5(SLC6A3):c.444C>T (p.Ile148=) rs186229286
NM_001044.5(SLC6A3):c.480C>T (p.Ile160=)
NM_001044.5(SLC6A3):c.57G>A (p.Lys19=) rs1733721886
NM_001044.5(SLC6A3):c.653+11G>A
NM_001044.5(SLC6A3):c.653+12T>C
NM_001044.5(SLC6A3):c.654-17C>A
NM_001044.5(SLC6A3):c.654-18G>A
NM_001044.5(SLC6A3):c.654-8C>T
NM_001044.5(SLC6A3):c.660C>T (p.Gly220=)
NM_001044.5(SLC6A3):c.678G>A (p.Gln226=)
NM_001044.5(SLC6A3):c.693C>T (p.Asp231=)
NM_001044.5(SLC6A3):c.69C>T (p.Ala23=)
NM_001044.5(SLC6A3):c.708G>A (p.Pro236=)
NM_001044.5(SLC6A3):c.732G>A (p.Leu244=)
NM_001044.5(SLC6A3):c.741C>T (p.Val247=)
NM_001044.5(SLC6A3):c.744C>T (p.Ile248=)
NM_001044.5(SLC6A3):c.774C>T (p.Gly258=)
NM_001044.5(SLC6A3):c.792+18C>T
NM_001044.5(SLC6A3):c.792+9C>T
NM_001044.5(SLC6A3):c.793-7C>T
NM_001044.5(SLC6A3):c.810C>G (p.Ala270=)
NM_001044.5(SLC6A3):c.837C>G (p.Ala279=) rs2126368210
NM_001044.5(SLC6A3):c.84G>A (p.Glu28=)
NM_001044.5(SLC6A3):c.870C>T (p.Ala290=)
NM_001044.5(SLC6A3):c.876C>T (p.Asp292=) rs146615804
NM_001044.5(SLC6A3):c.897C>T (p.Ser299=)
NM_001044.5(SLC6A3):c.927+11T>A
NM_001044.5(SLC6A3):c.927+8_927+9del
NM_001044.5(SLC6A3):c.928-12C>G
NM_001044.5(SLC6A3):c.928-16C>T
NM_001044.5(SLC6A3):c.942G>A (p.Ala314=)
NM_001044.5(SLC6A3):c.960C>T (p.Phe320=) rs1260915789
NM_001044.5(SLC6A3):c.963C>T (p.Ser321=)
NM_001044.5(SLC6A3):c.990C>T (p.Ile330=)

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