ClinVar Miner

List of variants reported as likely pathogenic for basal ganglia disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NC_000001.10:g.155183259_(155210558_155210826)del
NM_002608.4(PDGFB):c.1A>G (p.Met1Val) rs1932632616

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