ClinVar Miner

List of variants reported as benign for Parkinson disease by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile) rs11107
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141
NM_012179.4(FBXO7):c.949C>T (p.Leu317=) rs9726
NM_015575.4(GIGYF2):c.1554G>A (p.Glu518=) rs2305138
NM_015575.4(GIGYF2):c.2940A>G (p.Gln980=) rs3816334
NM_015575.4(GIGYF2):c.3461-9G>A rs2305137
NM_015575.4(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_015575.4(GIGYF2):c.3651G>A (p.Pro1217=) rs12328151
NM_015575.4(GIGYF2):c.3684+15G>A rs6437074

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