ClinVar Miner

List of variants in gene PINK1 reported as pathogenic for Parkinson disease

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_005216.4(DDOST):c.*807_*5409del
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) rs74315356
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) rs45539432
NM_032409.3(PINK1):c.13C>T (p.Gln5Ter)
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) rs730880302
NM_032409.3(PINK1):c.1597_1599CAA[3] (p.Gln534dup) rs750664040
NM_032409.3(PINK1):c.273del (p.Cys92fs)
NM_032409.3(PINK1):c.599del (p.Ala200fs) rs1557561340
NM_032409.3(PINK1):c.620del (p.Arg207fs) rs756677845
NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) rs74315360
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) rs74315357
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_032409.3(PINK1):c.813C>A (p.His271Gln) rs28940284
NM_032409.3(PINK1):c.836G>A (p.Arg279His) rs74315358
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) rs74315355
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359

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