ClinVar Miner

List of variants in gene combination NPHP3-ACAD11, UBA5 reported by OMIM

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_024818.6(UBA5):c.181C>T (p.Arg61Ter) rs886039756 0.00001
NM_024818.6(UBA5):c.1165G>T (p.Asp389Tyr) rs886039760
NM_024818.6(UBA5):c.164G>A (p.Arg55His) rs774318611
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu) rs886039761
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter) rs540839115
NM_024818.6(UBA5):c.778G>A (p.Val260Met) rs886039759
NM_024818.6(UBA5):c.855C>A (p.Tyr285Ter) rs745968949
NM_024818.6(UBA5):c.904C>T (p.Gln302Ter) rs886039757
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu) rs886039762
NM_024818.6(UBA5):c.971_972insC (p.Lys324fs) rs886039758

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