ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 18
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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.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.1067C>T (p.Thr356Met) rs577802449 0.00003
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met) rs746715018 0.00001
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His) rs753109365 0.00001
NC_000005.9:g.(?_1394830)_(1394893_?)dup
NM_001044.5(SLC6A3):c.1075TCC[1] (p.Ser360del)
NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)
NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)
NM_001044.5(SLC6A3):c.655C>T (p.Arg219Cys)
NM_001044.5(SLC6A3):c.792+4A>T
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro) rs1756285412

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