ClinVar Miner

List of variants in gene PINK1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) rs144071530 0.00015
NM_032409.3(PINK1):c.1475G>A (p.Arg492Gln) rs143620063 0.00008
NM_032409.3(PINK1):c.398C>T (p.Thr133Ile) rs374891130 0.00007
NM_032409.3(PINK1):c.1121C>G (p.Pro374Arg) rs1200609271 0.00004
NM_032409.3(PINK1):c.1544A>G (p.His515Arg) rs141363209 0.00004
NM_032409.3(PINK1):c.1006C>G (p.Pro336Ala) rs1453237796 0.00002
NM_032409.3(PINK1):c.112G>A (p.Ala38Thr) rs1355118616 0.00001
NM_032409.3(PINK1):c.1187T>G (p.Leu396Arg) rs1570407259 0.00001
NM_032409.3(PINK1):c.1271G>A (p.Gly424Asp) rs772774256 0.00001
NM_032409.3(PINK1):c.1576A>G (p.Lys526Glu) rs371338035 0.00001
NM_032409.3(PINK1):c.488G>A (p.Gly163Asp) rs1252036117 0.00001
NM_032409.3(PINK1):c.806C>T (p.Ala269Val) rs780971409 0.00001
NM_032409.3(PINK1):c.1099A>T (p.Asn367Tyr) rs2053171495
NM_032409.3(PINK1):c.1333G>A (p.Glu445Lys)
NM_032409.3(PINK1):c.1435C>T (p.Pro479Ser)
NM_032409.3(PINK1):c.1461G>C (p.Arg487Ser)
NM_032409.3(PINK1):c.1472A>C (p.Gln491Pro) rs2545265790
NM_032409.3(PINK1):c.345G>C (p.Gln115His) rs749456905
NM_032409.3(PINK1):c.448G>T (p.Gly150Cys) rs2053073220
NM_032409.3(PINK1):c.47C>T (p.Ala16Val) rs897203855
NM_032409.3(PINK1):c.535C>T (p.Pro179Ser)
NM_032409.3(PINK1):c.556A>C (p.Lys186Gln)
NM_032409.3(PINK1):c.638C>A (p.Ala213Asp)
NM_032409.3(PINK1):c.662T>C (p.Met221Thr) rs2545250336
NM_032409.3(PINK1):c.786G>C (p.Lys262Asn) rs2545258128
NM_032409.3(PINK1):c.85T>G (p.Tyr29Asp) rs2545244881
NM_032409.3(PINK1):c.91T>G (p.Leu31Val) rs2545244892
NM_032409.3(PINK1):c.977G>A (p.Arg326His)
NM_032409.3(PINK1):c.998C>T (p.Thr333Ile) rs1178309546

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