ClinVar Miner

List of variants in gene CDC73 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) rs2103178097
NM_024529.5(CDC73):c.1052dup (p.Asn352fs)
NM_024529.5(CDC73):c.1063_1066del (p.Lys355fs)
NM_024529.5(CDC73):c.1171G>T (p.Glu391Ter)
NM_024529.5(CDC73):c.1226_1230del (p.Lys409fs)
NM_024529.5(CDC73):c.1370G>A (p.Trp457Ter)
NM_024529.5(CDC73):c.1480_1481dup (p.Val494_Thr495insTer)
NM_024529.5(CDC73):c.157_173del (p.Glu53fs)
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) rs1572150469
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.449_452del (p.Lys150fs)
NM_024529.5(CDC73):c.510del (p.Arg171fs) rs2103123828
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.897del (p.Gly300fs)

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