ClinVar Miner

List of variants reported as likely pathogenic for Neurodegeneration with brain iron accumulation 5

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699 0.00001
NM_001029896.2(WDR45):c.1027del (p.Cys343fs) rs2065026878
NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp) rs797046100
NM_001029896.2(WDR45):c.130+1G>T
NM_001029896.2(WDR45):c.130+2T>C rs2147817625
NM_001029896.2(WDR45):c.131-2A>G rs1557084491
NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del) rs864309661
NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro) rs1602540331
NM_001029896.2(WDR45):c.183C>G (p.Asn61Lys)
NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro) rs1602540295
NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp) rs2065045650
NM_001029896.2(WDR45):c.234_235+1delinsC
NM_001029896.2(WDR45):c.2T>A (p.Met1Lys) rs1569523565
NM_001029896.2(WDR45):c.305_307del (p.Thr102del)
NM_001029896.2(WDR45):c.341+4A>C rs1602539322
NM_001029896.2(WDR45):c.380_382del (p.Ser127del) rs2147816288
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.405GTTTGA[1] (p.Glu137_Phe138del) rs1569523502
NM_001029896.2(WDR45):c.437-1G>A rs1602538372
NM_001029896.2(WDR45):c.437-2A>T
NM_001029896.2(WDR45):c.437-3T>G rs1602538385
NM_001029896.2(WDR45):c.476T>C (p.Leu159Pro) rs1197831794
NM_001029896.2(WDR45):c.498_499del (p.Cys166fs)
NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu) rs1131691592
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001029896.2(WDR45):c.516+5G>A
NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter) rs1569523562
NM_001029896.2(WDR45):c.598_599del (p.Leu200fs) rs2065032591
NM_001029896.2(WDR45):c.618del (p.Val207fs) rs1602538023
NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)
NM_001029896.2(WDR45):c.657_658del (p.Leu219_Phe220insTer) rs1569523468
NM_001029896.2(WDR45):c.725+1G>T rs2147815304
NM_001029896.2(WDR45):c.726-17_726-6del rs2147815209
NM_001029896.2(WDR45):c.755T>C (p.Leu252Pro) rs2147815172
NM_001029896.2(WDR45):c.827+1G>T rs1557083958
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001029896.2(WDR45):c.827+5G>C rs1557083956
NM_001029896.2(WDR45):c.828-2A>C rs2147814944
NM_001029896.2(WDR45):c.828-2A>G
NM_001029896.2(WDR45):c.892del (p.Ala298fs)
NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)
NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs) rs1557083878
NM_001029896.2(WDR45):c.966dup (p.Val323fs) rs797046105
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_001029896.2(WDR45):c.973+1_973+3del
NM_001136157.2(OTUD5):c.689-839_1060-3983del

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