ClinVar Miner

List of variants in gene PRKN reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu) rs182893847 0.00011
NM_004562.3(PRKN):c.701G>A (p.Arg234Gln) rs144032774 0.00010
NM_004562.3(PRKN):c.848T>C (p.Leu283Pro) rs56154308 0.00003
NM_004562.3(PRKN):c.765C>T (p.Ser255=) rs778612938 0.00001
NM_004562.3(PRKN):c.394CCA[3] (p.Pro133dup) rs747624684
NM_004562.3(PRKN):c.689C>A (p.Ala230Glu) rs571490973

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