ClinVar Miner

List of variants studied for basal ganglia disorder by Laboratory of Metabolic Disorders, Peking University First Hospital

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg) rs1553571227 0.00001
NC_000002.12:g.(?_227616600)_(227744395_?)del
NM_025243.4(SLC19A3):c.1274TAG[1] (p.Val426del) rs1553568249
NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro) rs1553571813
NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg) rs759807393
NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val) rs1282844765

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