ClinVar Miner

List of variants in gene CDC73 studied for not specified

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.828+29A>T rs138541554 0.01151
NM_024529.5(CDC73):c.424-28A>G rs115964909 0.00743
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00188
NM_024529.5(CDC73):c.512+35T>C rs191498906 0.00182
NM_024529.5(CDC73):c.730-46A>G rs140402302 0.00096
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_024529.5(CDC73):c.513-17A>C rs202192473 0.00046
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00032
NM_024529.5(CDC73):c.424-16C>T rs201012067 0.00020
NM_024529.5(CDC73):c.-29C>T rs60004315 0.00012
NM_024529.5(CDC73):c.1067-23A>T rs750567180 0.00008
NM_024529.5(CDC73):c.1154+20A>C rs567786660 0.00003
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 0.00001
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu) rs587778167 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.78C>T (p.Ile26=) rs1675465371 0.00001
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys) rs754070093 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NC_000001.10:g.(193181608_193202122)_(193223946_?)del
NM_024529.5(CDC73):c.-4del rs545666726
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1030+44G>A rs74920792
NM_024529.5(CDC73):c.1141C>T (p.Leu381=) rs2527456828
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.1560-16A>T rs935733228
NM_024529.5(CDC73):c.1560-37C>G rs184789846
NM_024529.5(CDC73):c.1560-4dup rs761016442
NM_024529.5(CDC73):c.237+29_237+32del rs80356645
NM_024529.5(CDC73):c.238-31T>A
NM_024529.5(CDC73):c.307+42G>A
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.5(CDC73):c.588_590delinsGAA (p.Ile197Asn) rs587778168
NM_024529.5(CDC73):c.729+33GA[10] rs80356646
NM_024529.5(CDC73):c.729+33GA[8] rs80356646
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg) rs2103130545
NM_024529.5(CDC73):c.804A>G (p.Arg268=) rs2103130595
NM_024529.5(CDC73):c.908-21_908-19del rs2527345301

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