ClinVar Miner

List of variants studied for Parkinson disease by Baylor Genetics

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_004562.3(PRKN):c.535-9T>A rs201039350 0.00038
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) rs757581951 0.00007
NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His) rs550525876 0.00006
NM_020821.3(VPS13C):c.1409G>A (p.Arg470His) rs142155201 0.00005
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745 0.00005
NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met) rs547200034 0.00004
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370 0.00004
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) rs917176878 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_032409.3(PINK1):c.1123+19A>G rs762129771 0.00001
NM_032409.3(PINK1):c.161C>A (p.Ala54Glu) rs867771554 0.00001
NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala) rs1700885234
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120
NM_004562.3(PRKN):c.1302G>A (p.Met434Ile) rs949479970
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_020821.3(VPS13C):c.1483+1G>A rs2046226928
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) rs200529993
NM_022089.4(ATP13A2):c.2896A>G (p.Ile966Val)
NM_022089.4(ATP13A2):c.348-9_351del rs749798211

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