ClinVar Miner

List of variants studied for basal ganglia disorder by Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN)

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629 0.00002
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630

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