ClinVar Miner

List of variants in gene CDC73

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 310
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HGVS dbSNP
CDC73, 1-BP INS, 373A
CDC73, 2-BP DEL
CDC73, 4-BP DEL, 685AGAG
CDC73, 41-BP DUP/INS
GRCh38/hg38 1q31.2(chr1:193211504-193302626)x3
NC_000001.10:g.(?_193091321)_(193091471_?)del
NC_000001.10:g.(?_193091325)_(193094353_?)dup
NC_000001.10:g.(?_193099298)_(193104725_?)del
NC_000001.10:g.(?_193099304)_(193099373_?)del
NC_000001.10:g.(?_193172925)_(193205486_?)dup
NC_000001.10:g.(?_193172925)_(193223945_?)dup
NC_000001.10:g.(?_193205376)_(193205496_?)del
NC_000001.10:g.(?_193218850)_(193219852_?)dup
NC_000001.10:g.(?_193218854)_(193219848_?)del
NM_024529.4(CDC73):c.*1056A>C rs548106852
NM_024529.4(CDC73):c.*1074A>T rs886045718
NM_024529.4(CDC73):c.*1075A>G rs886045719
NM_024529.4(CDC73):c.*1083A>T rs367704451
NM_024529.4(CDC73):c.*1092A>G rs886045720
NM_024529.4(CDC73):c.*1144delT rs538761780
NM_024529.4(CDC73):c.*1144dupT rs538761780
NM_024529.4(CDC73):c.*1251A>G rs550417983
NM_024529.4(CDC73):c.*1267A>G rs78218016
NM_024529.4(CDC73):c.*12C>A rs193025205
NM_024529.4(CDC73):c.*1303A>G rs886045723
NM_024529.4(CDC73):c.*1365T>C rs180929933
NM_024529.4(CDC73):c.*1472T>G rs576716003
NM_024529.4(CDC73):c.*1499T>A rs138503809
NM_024529.4(CDC73):c.*1599A>G rs543573271
NM_024529.4(CDC73):c.*1761T>C rs528066706
NM_024529.4(CDC73):c.*1787A>G rs747621423
NM_024529.4(CDC73):c.*1833A>G rs150894778
NM_024529.4(CDC73):c.*1858C>G rs886045724
NM_024529.4(CDC73):c.*1956T>C rs886045725
NM_024529.4(CDC73):c.*1985T>A rs886045726
NM_024529.4(CDC73):c.*2043A>T rs886045727
NM_024529.4(CDC73):c.*2085G>C rs150030810
NM_024529.4(CDC73):c.*2131A>T rs886045728
NM_024529.4(CDC73):c.*2304T>G rs144363422
NM_024529.4(CDC73):c.*2420A>C rs536960020
NM_024529.4(CDC73):c.*2427T>C rs372585994
NM_024529.4(CDC73):c.*2446C>T rs572307472
NM_024529.4(CDC73):c.*2455C>T rs886045729
NM_024529.4(CDC73):c.*2651T>G rs886045730
NM_024529.4(CDC73):c.*2677G>A rs192018514
NM_024529.4(CDC73):c.*2950A>G rs144681513
NM_024529.4(CDC73):c.*2962T>C rs147904515
NM_024529.4(CDC73):c.*2963A>G rs886045731
NM_024529.4(CDC73):c.*2982T>C rs886045732
NM_024529.4(CDC73):c.*3086C>T rs886045733
NM_024529.4(CDC73):c.*3257A>G rs886045734
NM_024529.4(CDC73):c.*3266A>G rs532839308
NM_024529.4(CDC73):c.*3409_*3410delTT rs886045735
NM_024529.4(CDC73):c.*3419T>A rs566373225
NM_024529.4(CDC73):c.*3507G>T rs151216299
NM_024529.4(CDC73):c.*3524A>G rs548190260
NM_024529.4(CDC73):c.*3542A>G rs886045736
NM_024529.4(CDC73):c.*3641G>A rs565579791
NM_024529.4(CDC73):c.*3714T>C rs886045737
NM_024529.4(CDC73):c.*3785A>G rs886045738
NM_024529.4(CDC73):c.*3786T>A rs74130943
NM_024529.4(CDC73):c.*3786T>C rs74130943
NM_024529.4(CDC73):c.*3791T>C rs886045739
NM_024529.4(CDC73):c.*3811_*3813delTTG rs143131672
NM_024529.4(CDC73):c.*453A>C rs547363180
NM_024529.4(CDC73):c.*463A>G rs879039427
NM_024529.4(CDC73):c.*518A>G rs190433473
NM_024529.4(CDC73):c.*580A>T rs191600804
NM_024529.4(CDC73):c.*937G>A rs886045715
NM_024529.4(CDC73):c.*94A>G rs547969893
NM_024529.4(CDC73):c.*956T>C rs886045716
NM_024529.4(CDC73):c.*972A>G rs886045717
NM_024529.4(CDC73):c.-10G>T rs188082584
NM_024529.4(CDC73):c.-11G>A rs80356643
NM_024529.4(CDC73):c.-121G>A rs886045711
NM_024529.4(CDC73):c.-143G>C rs778446879
NM_024529.4(CDC73):c.-186C>G rs886045710
NM_024529.4(CDC73):c.-190G>C rs886045709
NM_024529.4(CDC73):c.-30C>T rs770313192
NM_024529.4(CDC73):c.-4delG rs545666726
NM_024529.4(CDC73):c.-4dupG rs545666726
NM_024529.4(CDC73):c.-95G>A rs143969598
NM_024529.4(CDC73):c.1004C>G (p.Pro335Arg)
NM_024529.4(CDC73):c.1011C>T (p.Ala337=) rs372567546
NM_024529.4(CDC73):c.1013A>C (p.Gln338Pro) rs993696396
NM_024529.4(CDC73):c.1016C>G (p.Pro339Arg) rs1060500018
NM_024529.4(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.4(CDC73):c.1030+10T>C rs960030007
NM_024529.4(CDC73):c.1031-10T>C rs370349805
NM_024529.4(CDC73):c.1031-10T>G rs370349805
NM_024529.4(CDC73):c.1031-5C>T rs746118697
NM_024529.4(CDC73):c.1032T>G (p.Val344=) rs148612206
NM_024529.4(CDC73):c.1039G>T (p.Ala347Ser) rs1553288361
NM_024529.4(CDC73):c.1048C>T (p.Pro350Ser) rs773264613
NM_024529.4(CDC73):c.1052del (p.Pro351fs) rs1553288362
NM_024529.4(CDC73):c.1066+10T>C rs376113810
NM_024529.4(CDC73):c.1066+5G>A
NM_024529.4(CDC73):c.1066+8T>C rs80356647
NM_024529.4(CDC73):c.1067-3T>A
NM_024529.4(CDC73):c.1067-4A>G rs749519719
NM_024529.4(CDC73):c.1067-8C>G rs780485546
NM_024529.4(CDC73):c.1067-9T>A rs1253333879
NM_024529.4(CDC73):c.1075A>G (p.Thr359Ala) rs1060500010
NM_024529.4(CDC73):c.1078C>T (p.Pro360Ser)
NM_024529.4(CDC73):c.1081A>G (p.Ile361Val) rs776519655
NM_024529.4(CDC73):c.109A>T (p.Lys37Ter) rs886039716
NM_024529.4(CDC73):c.111G>C (p.Lys37Asn)
NM_024529.4(CDC73):c.1137C>G (p.Asp379Glu) rs774536123
NM_024529.4(CDC73):c.1143A>G (p.Leu381=) rs1384414870
NM_024529.4(CDC73):c.1149C>A (p.Asp383Glu) rs587778167
NM_024529.4(CDC73):c.1150C>G (p.Leu384Val)
NM_024529.4(CDC73):c.1155-122C>G
NM_024529.4(CDC73):c.1155-165A>G
NM_024529.4(CDC73):c.1155-166C>T
NM_024529.4(CDC73):c.1155-3A>G rs1060500014
NM_024529.4(CDC73):c.1155A>G (p.Lys385=)
NM_024529.4(CDC73):c.1176G>C (p.Lys392Asn) rs767993995
NM_024529.4(CDC73):c.1179G>A (p.Lys393=) rs200738107
NM_024529.4(CDC73):c.1184A>G (p.Gln395Arg)
NM_024529.4(CDC73):c.1185A>G (p.Gln395=) rs116358657
NM_024529.4(CDC73):c.1193A>T (p.Gln398Leu) rs878855088
NM_024529.4(CDC73):c.1215A>T (p.Ile405=) rs765427308
NM_024529.4(CDC73):c.1220G>A (p.Arg407Lys)
NM_024529.4(CDC73):c.1234A>G (p.Met412Val)
NM_024529.4(CDC73):c.1236G>A (p.Met412Ile) rs757006970
NM_024529.4(CDC73):c.1237C>G (p.Gln413Glu) rs1553291031
NM_024529.4(CDC73):c.1247G>C (p.Gly416Ala) rs1553291033
NM_024529.4(CDC73):c.1247del (p.Gly416fs)
NM_024529.4(CDC73):c.1248C>T (p.Gly416=)
NM_024529.4(CDC73):c.1249A>C (p.Thr417Pro)
NM_024529.4(CDC73):c.1249A>G (p.Thr417Ala)
NM_024529.4(CDC73):c.1266A>G (p.Thr422=) rs1553291034
NM_024529.4(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.4(CDC73):c.12_31dup (p.Tyr11fs) rs1558276082
NM_024529.4(CDC73):c.1304T>C (p.Met435Thr) rs202209013
NM_024529.4(CDC73):c.1307C>G (p.Pro436Arg)
NM_024529.4(CDC73):c.1307C>T (p.Pro436Leu) rs1344996460
NM_024529.4(CDC73):c.131+1G>A rs587776558
NM_024529.4(CDC73):c.131+4A>G rs878855089
NM_024529.4(CDC73):c.1317-163A>G
NM_024529.4(CDC73):c.132-13delTinsAATTA rs1064794712
NM_024529.4(CDC73):c.132-2A>G rs1057519419
NM_024529.4(CDC73):c.1332C>T (p.Ala444=) rs1060503808
NM_024529.4(CDC73):c.1333G>A (p.Val445Ile) rs368442389
NM_024529.4(CDC73):c.1351G>A (p.Ala451Thr) rs1553291414
NM_024529.4(CDC73):c.1368T>C (p.Gly456=) rs1553291416
NM_024529.4(CDC73):c.1374A>G (p.Pro458=) rs1257938148
NM_024529.4(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.4(CDC73):c.1385C>G (p.Pro462Arg)
NM_024529.4(CDC73):c.138A>T (p.Gly46=)
NM_024529.4(CDC73):c.13_16del (p.Leu5fs) rs1057519384
NM_024529.4(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.4(CDC73):c.1417+9C>T rs769784756
NM_024529.4(CDC73):c.1418-10C>G rs768713729
NM_024529.4(CDC73):c.1418-10C>T rs768713729
NM_024529.4(CDC73):c.1418-17C>G rs11583414
NM_024529.4(CDC73):c.1418-4A>G rs1269877061
NM_024529.4(CDC73):c.1418-6_1418-5delCT
NM_024529.4(CDC73):c.1432C>G (p.Leu478Val) rs1060500025
NM_024529.4(CDC73):c.1438T>G (p.Tyr480Asp) rs1553292962
NM_024529.4(CDC73):c.1451G>A (p.Arg484His)
NM_024529.4(CDC73):c.1453C>T (p.Leu485=) rs761968225
NM_024529.4(CDC73):c.145G>T (p.Gly49Cys)
NM_024529.4(CDC73):c.147C>T (p.Gly49=)
NM_024529.4(CDC73):c.1480G>A (p.Val494Ile) rs1199025166
NM_024529.4(CDC73):c.1483A>G (p.Thr495Ala) rs1558326136
NM_024529.4(CDC73):c.149A>G (p.Gln50Arg)
NM_024529.4(CDC73):c.1501T>C (p.Tyr501His) rs1553292970
NM_024529.4(CDC73):c.1513C>T (p.His505Tyr) rs1558326147
NM_024529.4(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.4(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067
NM_024529.4(CDC73):c.1551A>G (p.Thr517=) rs752668844
NM_024529.4(CDC73):c.1558A>G (p.Arg520Gly) rs1553292974
NM_024529.4(CDC73):c.1559+7C>A rs542111225
NM_024529.4(CDC73):c.1559+8C>G rs751279026
NM_024529.4(CDC73):c.1560-16A>T rs935733228
NM_024529.4(CDC73):c.1564A>G (p.Met522Val)
NM_024529.4(CDC73):c.1567G>T (p.Val523Leu) rs1558326418
NM_024529.4(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.4(CDC73):c.1572G>A (p.Lys524=) rs988984386
NM_024529.4(CDC73):c.1574A>G (p.His525Arg) rs188778681
NM_024529.4(CDC73):c.1575T>G (p.His525Gln)
NM_024529.4(CDC73):c.1581G>A (p.Ser527=) rs141013612
NM_024529.4(CDC73):c.158A>G (p.Glu53Gly)
NM_024529.4(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.4(CDC73):c.174T>C (p.Asp58=) rs1060503806
NM_024529.4(CDC73):c.188T>C (p.Leu63Pro) rs1060500015
NM_024529.4(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.4(CDC73):c.1A>G (p.Met1Val) rs1558276054
NM_024529.4(CDC73):c.201G>A (p.Val67=) rs752298916
NM_024529.4(CDC73):c.225C>G (p.Val75=) rs1327944866
NM_024529.4(CDC73):c.226C>T (p.Arg76Ter) rs886041158
NM_024529.4(CDC73):c.228A>G (p.Arg76=) rs978907694
NM_024529.4(CDC73):c.230G>A (p.Arg77His)
NM_024529.4(CDC73):c.237+1G>C rs794727303
NM_024529.4(CDC73):c.237+1G>T rs794727303
NM_024529.4(CDC73):c.237+28= rs4466634
NM_024529.4(CDC73):c.237+29_237+32del rs80356645
NM_024529.4(CDC73):c.238-1G>A rs587776559
NM_024529.4(CDC73):c.238-2A>T rs1064793897
NM_024529.4(CDC73):c.238-3dup rs1553278252
NM_024529.4(CDC73):c.245del (p.Asn82fs) rs1060500009
NM_024529.4(CDC73):c.258T>C (p.Val86=) rs1060500023
NM_024529.4(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.4(CDC73):c.27A>G (p.Arg9=) rs763452834
NM_024529.4(CDC73):c.280C>T (p.Leu94=) rs747811573
NM_024529.4(CDC73):c.296A>G (p.Asn99Ser) rs1060500017
NM_024529.4(CDC73):c.2T>C (p.Met1Thr) rs1553277483
NM_024529.4(CDC73):c.307+7A>G rs1553278270
NM_024529.4(CDC73):c.308-16C>A rs201766013
NM_024529.4(CDC73):c.315G>A (p.Ser105=) rs771258964
NM_024529.4(CDC73):c.318A>C (p.Ala106=) rs1415842827
NM_024529.4(CDC73):c.320G>A (p.Ser107Asn)
NM_024529.4(CDC73):c.322A>G (p.Ile108Val) rs1475793228
NM_024529.4(CDC73):c.333C>T (p.Ser111=) rs374834265
NM_024529.4(CDC73):c.33C>T (p.Tyr11=) rs150951102
NM_024529.4(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.4(CDC73):c.358C>T (p.Arg120Ter)
NM_024529.4(CDC73):c.370+9T>A rs1553278822
NM_024529.4(CDC73):c.371-3_371-2dup rs1553278836
NM_024529.4(CDC73):c.371-4A>G rs374021222
NM_024529.4(CDC73):c.371-6T>A rs1060500024
NM_024529.4(CDC73):c.371-7T>C rs757680253
NM_024529.4(CDC73):c.372C>G (p.Val124=) rs746368285
NM_024529.4(CDC73):c.375_376delinsT (p.Lys125fs) rs1553278841
NM_024529.4(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.4(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.4(CDC73):c.382G>A (p.Ala128Thr)
NM_024529.4(CDC73):c.391G>A (p.Val131Ile) rs769052041
NM_024529.4(CDC73):c.399A>G (p.Ala133=) rs1553278851
NM_024529.4(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.4(CDC73):c.3G>T (p.Met1Ile) rs28942098
NM_024529.4(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.4(CDC73):c.423+1G>A rs1131691732
NM_024529.4(CDC73):c.423G>A (p.Glu141=) rs1291044007
NM_024529.4(CDC73):c.424-16C>T rs201012067
NM_024529.4(CDC73):c.430G>T (p.Glu144Ter) rs1558283535
NM_024529.4(CDC73):c.43_45AAG[1] (p.Lys16del)
NM_024529.4(CDC73):c.451_452GA[2] (p.Arg152fs) rs1060500019
NM_024529.4(CDC73):c.467G>A (p.Arg156His)
NM_024529.4(CDC73):c.478_479CA[1] (p.His160fs)
NM_024529.4(CDC73):c.483dup (p.Glu162fs) rs1553279085
NM_024529.4(CDC73):c.498G>A (p.Gln166=) rs1553279087
NM_024529.4(CDC73):c.4del (p.Ala2fs) rs1060500020
NM_024529.4(CDC73):c.501T>C (p.Thr167=) rs200603992
NM_024529.4(CDC73):c.505C>T (p.Gln169Ter) rs1553279088
NM_024529.4(CDC73):c.512+3A>C rs1558283570
NM_024529.4(CDC73):c.512+5G>C
NM_024529.4(CDC73):c.512+6A>T rs1216367951
NM_024529.4(CDC73):c.513-17A>C rs202192473
NM_024529.4(CDC73):c.534A>G (p.Ser178=) rs150365980
NM_024529.4(CDC73):c.53_54del (p.Ile18fs) rs1558276157
NM_024529.4(CDC73):c.54del (p.Ile18fs) rs587776557
NM_024529.4(CDC73):c.55G>A (p.Val19Met) rs1060500013
NM_024529.4(CDC73):c.588_590delinsGAA (p.Ile197Asn) rs587778168
NM_024529.4(CDC73):c.619G>A (p.Ala207Thr) rs1060500016
NM_024529.4(CDC73):c.625A>C (p.Lys209Gln) rs1455683303
NM_024529.4(CDC73):c.648T>A (p.Ala216=) rs143149579
NM_024529.4(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.4(CDC73):c.664C>T (p.Arg222Ter)
NM_024529.4(CDC73):c.665G>A (p.Arg222Gln)
NM_024529.4(CDC73):c.668A>G (p.Asp223Gly)
NM_024529.4(CDC73):c.679_680AG[6] (p.Val230fs) rs760591174
NM_024529.4(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.4(CDC73):c.680G>A (p.Arg227Lys) rs145694828
NM_024529.4(CDC73):c.689T>A (p.Val230Glu) rs1558285020
NM_024529.4(CDC73):c.689T>C (p.Val230Ala)
NM_024529.4(CDC73):c.691T>C (p.Trp231Arg) rs1060500022
NM_024529.4(CDC73):c.718del (p.Ser240fs)
NM_024529.4(CDC73):c.723_725delinsC (p.Gly242fs) rs886041580
NM_024529.4(CDC73):c.729+1G>T rs1060500012
NM_024529.4(CDC73):c.729+202A>C
NM_024529.4(CDC73):c.729+33GA[8] rs80356646
NM_024529.4(CDC73):c.729+7A>G rs1060503807
NM_024529.4(CDC73):c.730-6T>C rs1060503809
NM_024529.4(CDC73):c.762A>G (p.Gln254=) rs141847473
NM_024529.4(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.4(CDC73):c.787C>T (p.Arg263Cys) rs878855091
NM_024529.4(CDC73):c.795T>C (p.Pro265=) rs1060503804
NM_024529.4(CDC73):c.803G>A (p.Arg268Gln) rs750706815
NM_024529.4(CDC73):c.803G>C (p.Arg268Pro) rs750706815
NM_024529.4(CDC73):c.806C>G (p.Pro269Arg) rs370333081
NM_024529.4(CDC73):c.815A>G (p.Asn272Ser) rs752383339
NM_024529.4(CDC73):c.815A>T (p.Asn272Ile)
NM_024529.4(CDC73):c.828G>A (p.Val276=) rs1558287563
NM_024529.4(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024529.4(CDC73):c.83G>C (p.Gly28Ala) rs1054465259
NM_024529.4(CDC73):c.840G>A (p.Leu280=) rs10921320
NM_024529.4(CDC73):c.844A>G (p.Thr282Ala) rs201236330
NM_024529.4(CDC73):c.845C>G (p.Thr282Ser) rs369024183
NM_024529.4(CDC73):c.849A>G (p.Lys283=) rs757206621
NM_024529.4(CDC73):c.855T>C (p.Pro285=) rs1553280489
NM_024529.4(CDC73):c.85G>T (p.Glu29Ter) rs1131691698
NM_024529.4(CDC73):c.85del (p.Glu29fs) rs587776560
NM_024529.4(CDC73):c.860C>T (p.Pro287Leu) rs1131691352
NM_024529.4(CDC73):c.873C>T (p.Asn291=) rs149400412
NM_024529.4(CDC73):c.876A>G (p.Arg292=)
NM_024529.4(CDC73):c.879C>T (p.Tyr293=) rs199551585
NM_024529.4(CDC73):c.881A>G (p.Asp294Gly)
NM_024529.4(CDC73):c.8_10delinsCT (p.Asp3fs) rs1057519385
NM_024529.4(CDC73):c.908-216G>A
NM_024529.4(CDC73):c.908-4G>A rs748472788
NM_024529.4(CDC73):c.908-5C>T rs200475944
NM_024529.4(CDC73):c.908-8T>C rs754598606
NM_024529.4(CDC73):c.908-9T>C rs1060503805
NM_024529.4(CDC73):c.912G>T (p.Thr304=) rs758730118
NM_024529.4(CDC73):c.92C>A (p.Ser31Tyr) rs1558276199
NM_024529.4(CDC73):c.973-8T>C rs557096653
NM_024529.4(CDC73):c.987C>T (p.Ala329=) rs1037572907
NM_024529.4(CDC73):c.989G>A (p.Arg330Gln) rs149875598

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