ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.799T>C (p.Tyr267His) rs114696251 0.00055
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_004562.3(PRKN):c.*121A>C rs557142572 0.00010
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_004562.3(PRKN):c.353G>C (p.Gly118Ala) rs144001694 0.00004
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864 0.00003
NM_004562.3(PRKN):c.551A>T (p.Asp184Val) rs142383136 0.00001
NM_004562.3(PRKN):c.*140A>G rs1182122095

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