ClinVar Miner

List of variants in gene NPHP3-ACAD11, UBA5 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.1024+32T>C rs2305629 0.41651
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.692C>T (p.Pro231Leu)
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter) rs540839115
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu) rs886039762

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