ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NC_000023.11:g.48930034_48935858del
NM_001029896.2(WDR45):c.2T>A (p.Met1Lys) rs1569523565
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.405_410GTTTGA[1] (p.Glu137_Phe138del) rs1569523502
NM_001029896.2(WDR45):c.437-1G>A
NM_001029896.2(WDR45):c.655_656CT[1] (p.Leu219_Phe220insTer) rs1569523468
NM_001029896.2(WDR45):c.827+2dup
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_007075.3(WDR45):c.1033A>G (p.Asn345Asp) rs797046100
NM_007075.3(WDR45):c.131-2A>G rs1557084491
NM_007075.3(WDR45):c.158_160TGG[1] (p.Val54del) rs864309661
NM_007075.3(WDR45):c.344+4A>C
NM_007075.3(WDR45):c.440-3T>G
NM_007075.3(WDR45):c.519+1_519+3delGTG rs1557084113
NM_007075.3(WDR45):c.56-2A>G
NM_007075.3(WDR45):c.953_954dup (p.Lys319fs) rs1557083878
NM_007075.3(WDR45):c.969dup (p.Val324fs) rs797046105

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