ClinVar Miner

List of variants reported as pathogenic for basal ganglia disorder by 3billion

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000345.4(SNCA):c.152G>A (p.Gly51Asp) rs431905511
NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)
NM_004562.3(PRKN):c.1083+1del rs2115426221
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_022089.4(ATP13A2):c.2540_2550del (p.Gln847fs)
NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter) rs1474448985
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435

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