ClinVar Miner

List of variants in gene CDC73 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter) rs771907995 0.00001
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
CDC73, 41-BP DUP/INS
NC_000001.10:g.(?_193091331)_(193121594_?)del
NC_000001.10:g.(?_193094232)_(193094357_?)del
NC_000001.10:g.(?_193094317)_(193111354_?)del
NC_000001.10:g.(?_193099298)_(193099379_?)del
NC_000001.10:g.(?_193104511)_(193104729_?)del
NC_000001.10:g.(?_193172915)_(193172992_?)del
NC_000001.10:g.(?_193181185)_(193181617_?)del
NC_000001.10:g.(?_193181185)_(193219842_?)del
NC_000001.10:g.(?_193202113)_(193205496_?)del
NC_000001.11:g.(?_193122191)_(193122341_?)del
NC_000001.11:g.(?_193122191)_(193125227_?)del
NC_000001.11:g.(?_193122191)_(193150392_?)del
NC_000001.11:g.(?_193122191)_(193152454_?)del
NC_000001.11:g.(?_193122201)_(193125227_?)del
NC_000001.11:g.(?_193125102)_(193130253_?)del
NC_000001.11:g.(?_193130174)_(193130243_?)del
NC_000001.11:g.(?_193135381)_(193138183_?)del
NC_000001.11:g.(?_193236246)_(193236366_?)del
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs) rs1677132309
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) rs2103178097
NM_024529.5(CDC73):c.1052del (p.Pro351fs) rs1553288362
NM_024529.5(CDC73):c.1052dup (p.Asn352fs) rs1553288362
NM_024529.5(CDC73):c.1055del (p.Asn352fs) rs2527455766
NM_024529.5(CDC73):c.1063_1066del (p.Lys355fs) rs2527455776
NM_024529.5(CDC73):c.109A>T (p.Lys37Ter) rs886039716
NM_024529.5(CDC73):c.10del (p.Val4fs) rs2103111548
NM_024529.5(CDC73):c.1171G>T (p.Glu391Ter) rs2102058252
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs) rs2527493724
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.1226_1230del (p.Lys409fs) rs2527493922
NM_024529.5(CDC73):c.1236dup (p.Gln413fs) rs2527493958
NM_024529.5(CDC73):c.1247del (p.Gly416fs) rs1572215344
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs) rs1558276082
NM_024529.5(CDC73):c.1307dup (p.Gln437fs)
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+1G>T rs587776558
NM_024529.5(CDC73):c.131+1del rs2103111785
NM_024529.5(CDC73):c.1370G>A (p.Trp457Ter) rs2527500780
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter) rs2102061867
NM_024529.5(CDC73):c.1394C>G (p.Ser465Ter) rs1677757408
NM_024529.5(CDC73):c.1394_1398del (p.Ser465fs) rs2527500853
NM_024529.5(CDC73):c.1397del (p.Pro466fs) rs2102061886
NM_024529.5(CDC73):c.13_16del (p.Leu5fs) rs1057519384
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.5(CDC73):c.1405dup (p.Ile469fs) rs1677757559
NM_024529.5(CDC73):c.1417dup (p.Ile473fs) rs2102061912
NM_024529.5(CDC73):c.1480_1481dup (p.Val494_Thr495insTer) rs1678016165
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter) rs1675541893
NM_024529.5(CDC73):c.157_173del (p.Glu53fs) rs2527289344
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.5(CDC73):c.170T>A (p.Leu57Ter)
NM_024529.5(CDC73):c.17del (p.Ser6fs) rs2527280793
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro) rs1060500015
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.1A>G (p.Met1Val) rs1558276054
NM_024529.5(CDC73):c.201del (p.His68fs) rs2103114004
NM_024529.5(CDC73):c.216_235dup (p.Ala79fs)
NM_024529.5(CDC73):c.220dup (p.Tyr74fs) rs1572142597
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.237+1G>C rs794727303
NM_024529.5(CDC73):c.237+1G>T rs794727303
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.238-2A>T rs1064793897
NM_024529.5(CDC73):c.240del (p.Glu81fs) rs2527299998
NM_024529.5(CDC73):c.245del (p.Asn82fs) rs1060500009
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter) rs2103111608
NM_024529.5(CDC73):c.291T>G (p.Tyr97Ter) rs1675671187
NM_024529.5(CDC73):c.2T>C (p.Met1Thr) rs1553277483
NM_024529.5(CDC73):c.2dup (p.Met1fs) rs2527280678
NM_024529.5(CDC73):c.331del (p.Ser111fs) rs2103121472
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter) rs2103121496
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter) rs2527311881
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) rs1572150469
NM_024529.5(CDC73):c.35_41del (p.Asn12fs) rs2527280897
NM_024529.5(CDC73):c.375_376delinsT (p.Lys125fs) rs1553278841
NM_024529.5(CDC73):c.375dup (p.Arg126fs) rs1572150584
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.3G>T (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter) rs2103121703
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.423+1G>A rs1131691732
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter) rs2527280954
NM_024529.5(CDC73):c.449_452del (p.Lys150fs) rs2527317468
NM_024529.5(CDC73):c.455_456del (p.Arg152fs) rs1060500019
NM_024529.5(CDC73):c.480_481del (p.His160fs) rs1572152420
NM_024529.5(CDC73):c.483dup (p.Glu162fs) rs1553279085
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter) rs2103123807
NM_024529.5(CDC73):c.49del (p.Glu17fs) rs2103111657
NM_024529.5(CDC73):c.4del (p.Ala2fs) rs1060500020
NM_024529.5(CDC73):c.501_502del (p.Glu168fs) rs2103123824
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter) rs1553279088
NM_024529.5(CDC73):c.510del (p.Arg171fs) rs2103123828
NM_024529.5(CDC73):c.520_523del (p.Ser174fs) rs2527324275
NM_024529.5(CDC73):c.529_530dup (p.Met177fs) rs2527324301
NM_024529.5(CDC73):c.53_54del (p.Ile18fs) rs1558276157
NM_024529.5(CDC73):c.54del (p.Ile18fs) rs587776557
NM_024529.5(CDC73):c.56_57del (p.Val19fs) rs2527281026
NM_024529.5(CDC73):c.626_629del (p.Lys209fs) rs2103126261
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter) rs2103126265
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter) rs1675465013
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter) rs2527324739
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter) rs2527281261
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024529.5(CDC73):c.701dup (p.Thr235fs) rs2527324879
NM_024529.5(CDC73):c.718del (p.Ser240fs) rs1572154885
NM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs) rs886041580
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.5(CDC73):c.7dup (p.Asp3fs) rs1675462891
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.85del (p.Glu29fs) rs587776560
NM_024529.5(CDC73):c.877dup (p.Tyr293fs) rs2103132218
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter) rs2103132220
NM_024529.5(CDC73):c.893del (p.Phe298fs) rs2103132250
NM_024529.5(CDC73):c.897del (p.Gly300fs) rs2527341649
NM_024529.5(CDC73):c.8_10delinsCT (p.Asp3fs) rs1057519385
NM_024529.5(CDC73):c.96del (p.Trp32fs) rs2527281408
NM_024529.5(CDC73):c.99del (p.Lys34fs) rs2527281416

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