ClinVar Miner

List of variants studied for Parkinson disease 11, autosomal dominant, susceptibility to by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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_001103146.3(GIGYF2):c.3630_3632del (p.Gln1216del) rs10555297 0.62170
NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=) rs12328151 0.16825

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