ClinVar Miner

List of variants studied for thiamine-responsive dysfunction syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001

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