ClinVar Miner

List of variants studied for SLC6A3-related dopamine transporter deficiency syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001044.5(SLC6A3):c.1498+14A>G rs429699 0.98180
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=) rs369288905 0.00019

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