ClinVar Miner

List of variants in gene CDC73 reported as likely benign by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_024529.5(CDC73):c.1067-23A>T rs750567180 0.00008
NM_024529.5(CDC73):c.1154+20A>C rs567786660 0.00004
NM_024529.5(CDC73):c.-29C>T
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1141C>T (p.Leu381=)
NM_024529.5(CDC73):c.1560-37C>G
NM_024529.5(CDC73):c.238-31T>A
NM_024529.5(CDC73):c.307+42G>A
NM_024529.5(CDC73):c.512+35T>C
NM_024529.5(CDC73):c.729+33GA[10]
NM_024529.5(CDC73):c.804A>G (p.Arg268=) rs2103130595
NM_024529.5(CDC73):c.908-21_908-19del

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