ClinVar Miner

List of variants in gene PRKN reported as uncertain significance for Parkinson disease

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NC_000006.11:g.(?_161969866)_(161970055_?)dup
NC_000006.11:g.(?_162622163)_(162622284_?)dup
NC_000006.11:g.(?_162683537)_(162864525_?)dup
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864
NM_004562.3(PRKN):c.1019G>A (p.Gly340Glu)
NM_004562.3(PRKN):c.1117C>A (p.His373Asn) rs1240306663
NM_004562.3(PRKN):c.125G>A (p.Arg42His) rs368134308
NM_004562.3(PRKN):c.1330G>C (p.Glu444Gln) rs772592654
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059
NM_004562.3(PRKN):c.172-9C>G rs758769558
NM_004562.3(PRKN):c.300G>C (p.Gln100His)
NM_004562.3(PRKN):c.443T>A (p.Val148Glu) rs1060502319
NM_004562.3(PRKN):c.517A>G (p.Thr173Ala)
NM_004562.3(PRKN):c.686T>C (p.Ile229Thr) rs1562430302
NM_004562.3(PRKN):c.689C>T (p.Ala230Val) rs571490973
NM_004562.3(PRKN):c.730G>A (p.Val244Ile) rs771259513
NM_004562.3(PRKN):c.761A>G (p.Asn254Ser) rs139600787
NM_004562.3(PRKN):c.799T>C (p.Tyr267His)
NM_004562.3(PRKN):c.8-14A>G rs769722629
NM_004562.3(PRKN):c.838G>A (p.Asp280Asn)
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)
NM_004562.3(PRKN):c.988G>A (p.Val330Met)

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