ClinVar Miner

List of variants reported for Parkinsonian-pyramidal syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) rs141286570 0.00054
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser) rs369612645 0.00011
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser) rs188111542 0.00010
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=) rs201127594 0.00005
NM_012179.4(FBXO7):c.465G>A (p.Ala155=) rs765523844 0.00003
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu) rs1182785309 0.00001
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu) rs376455464 0.00001
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) rs772175765
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg) rs112660869

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