ClinVar Miner

List of variants studied for basal ganglia disorder by Institute of Human Genetics, University Hospital of Duesseldorf

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004736.4(XPR1):c.762C>T (p.Ala254=) rs776659201 0.00007
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) rs200017837 0.00007
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) rs34995376 0.00001
NM_004736.4(XPR1):c.1811G>A (p.Arg604Gln) rs2102226595
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)

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