ClinVar Miner

List of variants in gene SLC6A3 reported as benign for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001044.5(SLC6A3):c.1498+14A>G rs429699 0.98180
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) rs6347 0.32752
NM_001044.5(SLC6A3):c.*35T>C rs1042098 0.31144
NM_001044.5(SLC6A3):c.419-12C>A rs460000 0.30619
NM_001044.5(SLC6A3):c.286+20C>G rs8179023 0.09016
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=) rs6348 0.07818
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350 0.05616
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=) rs6346 0.04096
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=) rs6349 0.02926
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=) rs6880875 0.02803
NM_001044.5(SLC6A3):c.653+13C>T rs16878300 0.00986
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=) rs8179035 0.00436
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=) rs28364998 0.00228
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=) rs2270912 0.00194
NM_001044.5(SLC6A3):c.1839+9G>A rs184515054 0.00152
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=) rs115529609 0.00150
NM_001044.5(SLC6A3):c.1032-18C>T rs8179028 0.00090
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=) rs115160598 0.00057
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) rs8179034 0.00039
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=) rs28363072 0.00035
NM_001044.5(SLC6A3):c.1498+10G>A rs759848180 0.00033
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile) rs140401978 0.00029
NM_001044.5(SLC6A3):c.1767+13A>G rs28363130 0.00026
NM_001044.5(SLC6A3):c.1269+12G>A rs367687282 0.00025
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=) rs369288905 0.00019
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=) rs201605046 0.00019
NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=) rs138475489 0.00004
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=) rs186229286 0.00004
NM_001044.5(SLC6A3):c.1031+71G>T rs40358
NM_001044.5(SLC6A3):c.1269+17G>A rs374618829
NM_001044.5(SLC6A3):c.1399-11del

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