ClinVar Miner

Variants in gene PANK2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00014
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650

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