ClinVar Miner

List of variants in gene CDC73 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.1155-122C>G rs10921328 0.62038
NM_024529.5(CDC73):c.423+108G>A rs10921318 0.60647
NM_024529.5(CDC73):c.1418-67T>G rs41305084 0.05617
NM_024529.5(CDC73):c.908-216G>A rs74130925 0.04519
NM_024529.5(CDC73):c.1067-108T>G rs41308389 0.04426
NM_024529.5(CDC73):c.1317-335T>G rs74130938 0.04401
NM_024529.5(CDC73):c.423+270C>T rs72731066 0.04058
NM_024529.5(CDC73):c.729+61T>A rs79598234 0.02240
NM_024529.5(CDC73):c.1067-86C>T rs41302543 0.01942
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_024529.5(CDC73):c.1317-163A>G rs79418522 0.01345
NM_024529.5(CDC73):c.1560-313A>G rs143565572 0.01206
NM_024529.5(CDC73):c.1155-165A>G rs150246947 0.01151
NM_024529.5(CDC73):c.828+29A>T rs138541554 0.01151
NM_024529.5(CDC73):c.1155-166C>T rs140252535 0.01137
NM_024529.5(CDC73):c.828+227T>A rs147800316 0.00688
NM_024529.5(CDC73):c.729+156C>T rs555139865 0.00647
NM_024529.5(CDC73):c.1154+270G>A rs147678053 0.00586
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
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.513-17A>C rs202192473 0.00046
NM_024529.5(CDC73):c.424-16C>T rs201012067 0.00020
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.879C>T (p.Tyr293=) rs199551585 0.00006
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
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.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.1405A>G (p.Ile469Val) rs1252554973 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.794C>T (p.Pro265Leu) rs1335804597 0.00001
NM_024529.5(CDC73):c.806C>G (p.Pro269Arg) rs370333081 0.00001
NC_000001.11:g.193121735C>A rs10737621
NM_024529.5(CDC73):c.-4del rs545666726
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.-9G>C
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro) rs993696396
NM_024529.5(CDC73):c.1030+44G>A rs74920792
NM_024529.5(CDC73):c.1086C>G (p.Ile362Met)
NM_024529.5(CDC73):c.109A>T (p.Lys37Ter) rs886039716
NM_024529.5(CDC73):c.1154+144A>T rs115158706
NM_024529.5(CDC73):c.1155-3A>G rs1060500014
NM_024529.5(CDC73):c.1155-79del rs201897186
NM_024529.5(CDC73):c.1166C>T (p.Ser389Leu)
NM_024529.5(CDC73):c.1307C>G (p.Pro436Arg) rs1344996460
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.1317-114T>A rs3738244
NM_024529.5(CDC73):c.132-13delinsAATTA rs1064794712
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.1432C>A (p.Leu478Met)
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile) rs1199025166
NM_024529.5(CDC73):c.1560-16A>T rs935733228
NM_024529.5(CDC73):c.1567G>T (p.Val523Leu) rs1558326418
NM_024529.5(CDC73):c.211C>T (p.His71Tyr) rs2103114010
NM_024529.5(CDC73):c.237+28T>C rs4466634
NM_024529.5(CDC73):c.237+29_237+32del rs80356645
NM_024529.5(CDC73):c.238-2A>T rs1064793897
NM_024529.5(CDC73):c.240del (p.Glu81fs)
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.5(CDC73):c.375_376delinsT (p.Lys125fs) rs1553278841
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.398C>G (p.Ala133Gly)
NM_024529.5(CDC73):c.3G>T (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.423+1G>A rs1131691732
NM_024529.5(CDC73):c.423+279_423+281dup rs539324030
NM_024529.5(CDC73):c.423+297dup rs1038256301
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys) rs2103123773
NM_024529.5(CDC73):c.480_481del (p.His160fs) rs1572152420
NM_024529.5(CDC73):c.513-12A>G
NM_024529.5(CDC73):c.651G>C (p.Glu217Asp)
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala) rs1572154890
NM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs) rs886041580
NM_024529.5(CDC73):c.729+202A>C rs148211159
NM_024529.5(CDC73):c.729+33GA[8] rs80356646
NM_024529.5(CDC73):c.79T>C (p.Phe27Leu)
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter) rs1131691698
NM_024529.5(CDC73):c.860C>T (p.Pro287Leu) rs1131691352
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.907+2C>G
NM_024529.5(CDC73):c.975G>A (p.Glu325=)
NM_024529.5(CDC73):c.985G>T (p.Ala329Ser) rs1436120903

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