ClinVar Miner

List of variants studied for Parkinson disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602 0.00002
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
GRCh37/hg19 1q22(chr1:155188179-155209868)
GRCh37/hg19 6q26(chr6:162137107-162137163)
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120
NM_012179.4(FBXO7):c.1144+1G>T rs730880272
NM_012179.4(FBXO7):c.152del (p.Asn51fs) rs1228608709

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