ClinVar Miner

List of variants reported as benign for Parkinson disease by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_012179.4(FBXO7):c.122+272T>G rs8137714
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile) rs11107
NM_012179.4(FBXO7):c.949C>T (p.Leu317=) rs9726
NM_015575.4(GIGYF2):c.2940A>G (p.Gln980=) rs3816334
NM_015575.4(GIGYF2):c.3461-9G>A rs2305137
NM_015575.4(GIGYF2):c.3630_3632del (p.Gln1216del) rs10555297
NM_015575.4(GIGYF2):c.3651G>A (p.Pro1217=) rs12328151
NM_015575.4(GIGYF2):c.3684+15G>A rs6437074
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740
NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val) rs2178403
NM_198241.3(EIF4G1):c.3325+16C>T rs2293605
NM_198241.3(EIF4G1):c.3953+9A>G rs939317

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