ClinVar Miner

List of variants studied for thiamine-responsive dysfunction syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) rs773971505 0.00006
NM_001126121.2(SLC25A19):c.240A>C (p.Lys80Asn) rs1175745274
NM_022445.4(TPK1):c.576T>G (p.Cys192Trp) rs1554523224

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