ClinVar Miner

List of variants in gene SLC6A3 reported as uncertain significance for SLC6A3-related dopamine transporter deficiency syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val) rs28364997 0.00059
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) rs145114326 0.00044
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) rs201800694 0.00034
NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly) rs147837176 0.00027
NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp) rs149444784 0.00019
NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro) rs149180162 0.00013
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) rs145782788 0.00012
NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln) rs140639546 0.00009
NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln) rs376797072 0.00009
NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val) rs757597222 0.00009
NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile) rs143342582 0.00009
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu) rs146798197 0.00006
NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=) rs200757674 0.00005
NM_001044.5(SLC6A3):c.895A>G (p.Ser299Gly) rs571552841 0.00005
NM_001044.5(SLC6A3):c.1037C>T (p.Ala346Val) rs202173303 0.00004
NM_001044.5(SLC6A3):c.1157-15C>T rs375416292 0.00004
NM_001044.5(SLC6A3):c.1364C>T (p.Ala455Val) rs370907238 0.00004
NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His) rs200431667 0.00004
NM_001044.5(SLC6A3):c.1dup (p.Met1fs) rs755504692 0.00004
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser) rs756042082 0.00004
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met) rs577802449 0.00003
NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys) rs763131939 0.00003
NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile) rs750843353 0.00002
NM_001044.5(SLC6A3):c.1138G>A (p.Gly380Arg) rs368954324 0.00002
NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp) rs778617693 0.00002
NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn) rs750854317 0.00002
NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg) rs373070875 0.00002
NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met) rs372722904 0.00002
NM_001044.5(SLC6A3):c.661G>A (p.Val221Met) rs138948519 0.00002
NM_001044.5(SLC6A3):c.1081G>A (p.Gly361Ser) rs766875221 0.00001
NM_001044.5(SLC6A3):c.1398+4C>T rs567904721 0.00001
NM_001044.5(SLC6A3):c.1411G>A (p.Val471Ile) rs75916702 0.00001
NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln) rs774827862 0.00001
NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln) rs1236294203 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001044.5(SLC6A3):c.163G>A (p.Val55Met) rs751986313 0.00001
NM_001044.5(SLC6A3):c.1783A>G (p.Ile595Val) rs758010586 0.00001
NM_001044.5(SLC6A3):c.1825G>A (p.Val609Met) rs1176423145 0.00001
NM_001044.5(SLC6A3):c.40G>A (p.Val14Met) rs190367530 0.00001
NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met) rs746715018 0.00001
NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val) rs778416596 0.00001
NM_001044.5(SLC6A3):c.472G>A (p.Val158Ile) rs543317006 0.00001
NM_001044.5(SLC6A3):c.569C>T (p.Ser190Leu) rs1483254325 0.00001
NM_001044.5(SLC6A3):c.574G>A (p.Ala192Thr) rs200132776 0.00001
NM_001044.5(SLC6A3):c.594T>G (p.Ser198Arg) rs780048733 0.00001
NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg) rs372788698 0.00001
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His) rs753109365 0.00001
NM_001044.5(SLC6A3):c.707C>T (p.Pro236Leu) rs760467074 0.00001
NM_001044.5(SLC6A3):c.742A>G (p.Ile248Val) rs1365255948 0.00001
NM_001044.5(SLC6A3):c.82G>C (p.Glu28Gln) rs866199902 0.00001
NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln) rs748308614 0.00001
NM_001044.5(SLC6A3):c.918C>T (p.Cys306=) rs746199611 0.00001
NM_001044.5(SLC6A3):c.935T>C (p.Ile312Thr) rs1756287215 0.00001
NC_000005.9:g.(?_1394830)_(1394893_?)dup
NM_001044.5(SLC6A3):c.1031+6C>T rs767925756
NM_001044.5(SLC6A3):c.1042G>C (p.Val348Leu) rs1756241093
NM_001044.5(SLC6A3):c.1084T>C (p.Phe362Leu)
NM_001044.5(SLC6A3):c.1087G>C (p.Val363Leu)
NM_001044.5(SLC6A3):c.1090G>A (p.Val364Ile)
NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)
NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys) rs6350
NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr) rs1402133250
NM_001044.5(SLC6A3):c.1225G>A (p.Val409Met)
NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr) rs1170256759
NM_001044.5(SLC6A3):c.1269+5G>A rs2126343796
NM_001044.5(SLC6A3):c.1305C>G (p.Ile435Met) rs760545154
NM_001044.5(SLC6A3):c.1311G>C (p.Glu437Asp) rs752558131
NM_001044.5(SLC6A3):c.1379C>G (p.Ser460Cys)
NM_001044.5(SLC6A3):c.1408_1409delinsAG (p.Tyr470Ser) rs2126338512
NM_001044.5(SLC6A3):c.1441G>A (p.Gly481Ser)
NM_001044.5(SLC6A3):c.1443C>T (p.Gly481=)
NM_001044.5(SLC6A3):c.1459G>A (p.Gly487Arg) rs2126338372
NM_001044.5(SLC6A3):c.1498+13_1498+14delinsTG rs2126338242
NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)
NM_001044.5(SLC6A3):c.1527G>C (p.Gln509His) rs6880875
NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)
NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)
NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)
NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)
NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)
NM_001044.5(SLC6A3):c.1639C>A (p.His547Asn) rs781299950
NM_001044.5(SLC6A3):c.163G>T (p.Val55Leu)
NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr) rs1423226570
NM_001044.5(SLC6A3):c.1675G>A (p.Ala559Thr)
NM_001044.5(SLC6A3):c.1676C>G (p.Ala559Gly)
NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)
NM_001044.5(SLC6A3):c.1768-7_1768-6del rs781468421
NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)
NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys) rs1755834750
NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe) rs1560928848
NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)
NM_001044.5(SLC6A3):c.247G>A (p.Val83Ile)
NM_001044.5(SLC6A3):c.24G>A (p.Val8=)
NM_001044.5(SLC6A3):c.286+6T>A
NM_001044.5(SLC6A3):c.310C>A (p.Leu104Ile) rs141740642
NM_001044.5(SLC6A3):c.366G>C (p.Gln122His) rs1733660991
NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln) rs746351989
NM_001044.5(SLC6A3):c.409A>G (p.Ile137Val) rs1733660279
NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg) rs1014165579
NM_001044.5(SLC6A3):c.457G>A (p.Gly153Ser)
NM_001044.5(SLC6A3):c.493C>T (p.His165Tyr)
NM_001044.5(SLC6A3):c.50C>A (p.Pro17Gln)
NM_001044.5(SLC6A3):c.554A>G (p.Asn185Ser)
NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)
NM_001044.5(SLC6A3):c.586G>A (p.Asp196Asn) rs2126394511
NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu) rs149444784
NM_001044.5(SLC6A3):c.616G>C (p.Asp206His)
NM_001044.5(SLC6A3):c.625G>T (p.Gly209Trp)
NM_001044.5(SLC6A3):c.641C>T (p.Ala214Val)
NM_001044.5(SLC6A3):c.653+5G>A rs1756726188
NM_001044.5(SLC6A3):c.654-3C>T
NM_001044.5(SLC6A3):c.655C>T (p.Arg219Cys)
NM_001044.5(SLC6A3):c.701G>T (p.Gly234Val)
NM_001044.5(SLC6A3):c.71T>G (p.Val24Gly) rs2126415795
NM_001044.5(SLC6A3):c.792+4A>T
NM_001044.5(SLC6A3):c.793-16C>G rs1756412005
NM_001044.5(SLC6A3):c.81G>C (p.Lys27Asn) rs915327713
NM_001044.5(SLC6A3):c.823G>A (p.Val275Met) rs141056632
NM_001044.5(SLC6A3):c.875A>G (p.Asp292Gly)
NM_001044.5(SLC6A3):c.876C>A (p.Asp292Glu) rs146615804
NM_001044.5(SLC6A3):c.886G>A (p.Ala296Thr)
NM_001044.5(SLC6A3):c.923C>T (p.Ala308Val) rs373667971
NM_001044.5(SLC6A3):c.970G>A (p.Val324Met) rs779887018
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro) rs1756285412
NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala) rs1756285211

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