ClinVar Miner

List of variants in gene PACRG, PRKN studied for Parkinson disease

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.-30T>C rs200065081 0.00671
NM_004562.3(PRKN):c.-42T>C rs112850281 0.00042
NM_004562.3(PRKN):c.-46C>T rs369389244 0.00011
NM_004562.3(PRKN):c.2T>C (p.Met1Thr) rs771586218 0.00008
NM_004562.3(PRKN):c.-85G>A rs556535340 0.00004
NM_004562.3(PRKN):c.-57G>C rs750626864 0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691 0.00001
NC_000006.11:g.(162683798_162864341)_(162864506_163148693)dup
NM_004562.3(PRKN):c.-78C>A rs765761156
NM_004562.3(PRKN):c.7+1G>T rs397518439
NM_004562.3(PRKN):c.7+4C>T rs749081702

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