ClinVar Miner

List of variants reported as benign for SLC6A3-related dopamine transporter deficiency syndrome by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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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.419-12C>A rs460000 0.30619

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