ClinVar Miner

List of variants reported as likely pathogenic for basal ganglia disorder by Mendelics

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg) rs1599719534
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr) rs1599712523
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu) rs1599712456
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694

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