ClinVar Miner

List of variants in gene PINK1 reported by OMIM

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_032409.3(PINK1):c.836G>A (p.Arg279His) rs74315358 0.00007
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) rs45539432 0.00004
NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) rs119451946 0.00001
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) rs74315356 0.00001
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359 0.00001
NM_005216.4(DDOST):c.*807_*5409del
NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) rs74315361
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) rs730880302
NM_032409.3(PINK1):c.1597CAA[3] (p.Gln534dup) rs750664040
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.813C>A (p.His271Gln) rs28940284
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) rs74315355

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