ClinVar Miner

List of variants reported as likely benign for Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629

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