ClinVar Miner

List of variants in gene CDC73 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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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.-10G>T rs188082584 0.00024
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.1418-4A>G rs1269877061 0.00003
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 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.806C>G (p.Pro269Arg) rs370333081 0.00001
NC_000001.11:g.193121735C>A rs10737621
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.-9G>C
NM_024529.5(CDC73):c.1030+44G>A rs74920792
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.1161C>T (p.Val387=) rs1572215263
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+7C>G rs1572139906
NM_024529.5(CDC73):c.1316+1G>A rs2102058499
NM_024529.5(CDC73):c.1317-114T>A rs3738244
NM_024529.5(CDC73):c.132-13delinsAATTA rs1064794712
NM_024529.5(CDC73):c.1394C>G (p.Ser465Ter) rs1677757408
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.1432C>A (p.Leu478Met)
NM_024529.5(CDC73):c.211C>T (p.His71Tyr) rs2103114010
NM_024529.5(CDC73):c.237+1G>T rs794727303
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.291T>G (p.Tyr97Ter) rs1675671187
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.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.430G>T (p.Glu144Ter) rs1558283535
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.49del (p.Glu17fs) rs2103111657
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.700C>T (p.Arg234Ter) rs1675915231
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.72A>G (p.Glu24=) rs1572139792
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

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