ClinVar Miner

List of variants studied for SLC6A3-related dopamine transporter deficiency syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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.60G>A (p.Glu20=) rs115160598 0.00057
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) rs145114326 0.00044
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) rs8179034 0.00039
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) rs201800694 0.00034
NM_001044.5(SLC6A3):c.1767+13A>G rs28363130 0.00026
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=) rs8179027 0.00022
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) rs145782788 0.00012
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu) rs146798197 0.00006
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser) rs756042082 0.00004
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=) rs767241571

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