ClinVar Miner

List of variants reported as likely benign for Kufor-Rakeb syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00422
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075

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