ClinVar Miner

Variants in gene PRKN with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.*94A>G rs62637702 0.02462
NM_004562.3(PRKN):c.172-17dup rs776880599 0.01724
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740 0.01025
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496 0.00357
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys) rs55830907 0.00191
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004562.3(PRKN):c.816C>T (p.Leu272=) rs143902760 0.00002
NM_004562.3(PRKN):c.172-18T>A rs778021436
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500

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