ClinVar Miner

List of variants studied for Parkinson disease by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001103146.3(GIGYF2):c.2940A>G (p.Gln980=) rs3816334 0.69457
NM_001103146.3(GIGYF2):c.3684+15G>A rs6437074 0.69433
NM_001103146.3(GIGYF2):c.3461-9G>A rs2305137 0.66032
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile) rs11107 0.40992
NM_012179.4(FBXO7):c.949C>T (p.Leu317=) rs9726 0.40979
NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=) rs12328151 0.17959
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.15471
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) rs2305138 0.07960
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03327
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445

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