ClinVar Miner

List of variants studied for Parkinson disease by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
GRCh37/hg19 1q22(chr1:155188179-155209868)
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.762-1G>C rs1237637353
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986
NM_012179.4(FBXO7):c.1144+1G>T rs730880272
NM_012179.4(FBXO7):c.152del (p.Asn51fs) rs1228608709
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584

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