ClinVar Miner

List of variants in gene CDC73 reported as likely pathogenic

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_193099294)_(193111206_?)del
NC_000001.10:g.(?_193172919)_(193205492_?)dup
NC_000001.11:g.(?_193130168)_(193135595_?)del
NM_024529.5(CDC73):c.1030+1G>A
NM_024529.5(CDC73):c.1030+2T>C
NM_024529.5(CDC73):c.1067-2A>G
NM_024529.5(CDC73):c.1067-2_1069del rs2102038469
NM_024529.5(CDC73):c.1155-3A>G rs1060500014
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.1316+1del rs2102058495
NM_024529.5(CDC73):c.132-2A>C
NM_024529.5(CDC73):c.132-2A>G rs1057519419
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro) rs1060500015
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.237_237+1insA
NM_024529.5(CDC73):c.238-1G>T
NM_024529.5(CDC73):c.238-8G>A rs2103117753
NM_024529.5(CDC73):c.307+1G>A
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.430G>T (p.Glu144Ter) rs1558283535
NM_024529.5(CDC73):c.480_481del (p.His160fs) rs1572152420
NM_024529.5(CDC73):c.513-1G>A
NM_024529.5(CDC73):c.584del (p.Ser195fs)
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)
NM_024529.5(CDC73):c.729+1G>T rs1060500012
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589

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