ClinVar Miner

List of variants in gene NPHP3-ACAD11, UBA5 studied for complex neurodevelopmental disorder

Included ClinVar conditions (295):
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Gene type:
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Total variants: 24
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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.215G>A (p.Arg72His) rs150313260 0.00004
NM_024818.6(UBA5):c.460G>A (p.Val154Met) rs761169562 0.00002
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.684G>A (p.Ala228=) rs1313071575 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.199G>T (p.Asp67Tyr) rs61748106
NM_024818.6(UBA5):c.1A>G (p.Met1Val) rs2107921941
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)
NM_024818.6(UBA5):c.36_37del (p.Gln13fs) rs2107922089
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu) rs886039761
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.761T>C (p.Leu254Pro) rs2107943727
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.907T>C (p.Cys303Arg) rs1553770577
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn) rs772888455
NM_024818.6(UBA5):c.971_972insC (p.Lys324fs) rs886039758

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