ClinVar Miner

List of variants reported as likely pathogenic for basal ganglia disorder by Centogene AG - the Rare Disease Company

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs) rs746646126
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs) rs1271884981

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