ClinVar Miner

List of variants in gene CDC73 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024529.5(CDC73):c.1418-4A>G rs1269877061 0.00003
NM_024529.5(CDC73):c.305C>T (p.Ala102Val) rs778134705 0.00003
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1076C>T (p.Thr359Ile) rs1677294864 0.00001
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu) rs587778167 0.00001
NM_024529.5(CDC73):c.116A>G (p.Asn39Ser) rs746972930 0.00001
NM_024529.5(CDC73):c.1184A>G (p.Gln395Arg) rs374856513 0.00001
NM_024529.5(CDC73):c.1234A>G (p.Met412Val) rs752959843 0.00001
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val) rs1198867364 0.00001
NM_024529.5(CDC73):c.131+4A>G rs878855089 0.00001
NM_024529.5(CDC73):c.1405A>G (p.Ile469Val) rs1252554973 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1451G>A (p.Arg484His) rs774557338 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1580C>T (p.Ser527Leu) rs767254478 0.00001
NM_024529.5(CDC73):c.199G>A (p.Val67Met) rs748952219 0.00001
NM_024529.5(CDC73):c.322A>G (p.Ile108Val) rs1475793228 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.371-5T>C rs968260282 0.00001
NM_024529.5(CDC73):c.382G>A (p.Ala128Thr) rs756584058 0.00001
NM_024529.5(CDC73):c.391G>A (p.Val131Ile) rs769052041 0.00001
NM_024529.5(CDC73):c.625A>C (p.Lys209Gln) rs1455683303 0.00001
NM_024529.5(CDC73):c.754A>G (p.Ile252Val) rs374290883 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.788G>A (p.Arg263His) rs1307745420 0.00001
NM_024529.5(CDC73):c.794C>T (p.Pro265Leu) rs1335804597 0.00001
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln) rs750706815 0.00001
NM_024529.5(CDC73):c.806C>G (p.Pro269Arg) rs370333081 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NM_024529.5(CDC73):c.856A>G (p.Ile286Val) rs1362923384 0.00001
NM_024529.5(CDC73):c.-1G>T
NM_024529.5(CDC73):c.-2A>G rs1572139644
NM_024529.5(CDC73):c.-2dup
NM_024529.5(CDC73):c.-3A>G
NM_024529.5(CDC73):c.-5G>T
NM_024529.5(CDC73):c.1000A>G (p.Thr334Ala)
NM_024529.5(CDC73):c.1004C>G (p.Pro335Arg) rs1476163101
NM_024529.5(CDC73):c.1006G>T (p.Ala336Ser) rs2103178083
NM_024529.5(CDC73):c.1007C>T (p.Ala336Val)
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro) rs993696396
NM_024529.5(CDC73):c.1015C>A (p.Pro339Thr)
NM_024529.5(CDC73):c.1016C>G (p.Pro339Arg) rs1060500018
NM_024529.5(CDC73):c.1016C>T (p.Pro339Leu) rs1060500018
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1021C>T (p.Pro341Ser) rs1572196474
NM_024529.5(CDC73):c.1030+5A>C
NM_024529.5(CDC73):c.1043G>A (p.Arg348Lys)
NM_024529.5(CDC73):c.1043G>T (p.Arg348Ile)
NM_024529.5(CDC73):c.1046C>T (p.Pro349Leu)
NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)
NM_024529.5(CDC73):c.1055A>G (p.Asn352Ser) rs1677289748
NM_024529.5(CDC73):c.1067G>T (p.Gly356Val) rs2102038477
NM_024529.5(CDC73):c.1073G>A (p.Arg358Gln)
NM_024529.5(CDC73):c.1075A>G (p.Thr359Ala) rs1060500010
NM_024529.5(CDC73):c.1086C>G (p.Ile362Met)
NM_024529.5(CDC73):c.1087A>G (p.Ile363Val) rs2102038517
NM_024529.5(CDC73):c.109A>G (p.Lys37Glu)
NM_024529.5(CDC73):c.1102A>G (p.Thr368Ala)
NM_024529.5(CDC73):c.1106C>T (p.Thr369Ile)
NM_024529.5(CDC73):c.1121T>C (p.Met374Thr)
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
NM_024529.5(CDC73):c.1135G>C (p.Asp379His)
NM_024529.5(CDC73):c.1148A>G (p.Asp383Gly)
NM_024529.5(CDC73):c.1154A>G (p.Lys385Arg)
NM_024529.5(CDC73):c.1155-3A>G rs1060500014
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu) rs2102058240
NM_024529.5(CDC73):c.1172A>G (p.Glu391Gly)
NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del) rs1677687636
NM_024529.5(CDC73):c.1184A>T (p.Gln395Leu) rs374856513
NM_024529.5(CDC73):c.1189T>C (p.Cys397Arg)
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile) rs1677688538
NM_024529.5(CDC73):c.1219A>G (p.Arg407Gly)
NM_024529.5(CDC73):c.1232A>C (p.Gln411Pro) rs1242516197
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu) rs752959843
NM_024529.5(CDC73):c.1240C>G (p.Pro414Ala)
NM_024529.5(CDC73):c.1240C>T (p.Pro414Ser) rs1297552782
NM_024529.5(CDC73):c.1246G>T (p.Gly416Cys)
NM_024529.5(CDC73):c.1247G>C (p.Gly416Ala) rs1553291033
NM_024529.5(CDC73):c.1249A>C (p.Thr417Pro) rs1572215351
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala) rs1572215351
NM_024529.5(CDC73):c.1259G>C (p.Ser420Thr)
NM_024529.5(CDC73):c.1274A>G (p.Tyr425Cys) rs1677690233
NM_024529.5(CDC73):c.1285G>C (p.Asp429His)
NM_024529.5(CDC73):c.1300C>T (p.Leu434Phe)
NM_024529.5(CDC73):c.1304T>G (p.Met435Arg)
NM_024529.5(CDC73):c.1307C>G (p.Pro436Arg) rs1344996460
NM_024529.5(CDC73):c.1307C>T (p.Pro436Leu) rs1344996460
NM_024529.5(CDC73):c.131+4A>T
NM_024529.5(CDC73):c.1310A>G (p.Gln437Arg)
NM_024529.5(CDC73):c.1317-3T>C
NM_024529.5(CDC73):c.1317-4G>A
NM_024529.5(CDC73):c.1317-5T>C
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1337T>C (p.Phe446Ser)
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
NM_024529.5(CDC73):c.1348C>T (p.Pro450Ser)
NM_024529.5(CDC73):c.1367_1417+426dup
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1394C>T (p.Ser465Leu)
NM_024529.5(CDC73):c.13C>A (p.Leu5Ile)
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu) rs1677757689
NM_024529.5(CDC73):c.1418T>C (p.Ile473Thr)
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp) rs1553292962
NM_024529.5(CDC73):c.1439A>G (p.Tyr480Cys)
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024529.5(CDC73):c.145G>T (p.Gly49Cys) rs200806263
NM_024529.5(CDC73):c.1463A>G (p.Asn488Ser)
NM_024529.5(CDC73):c.1471A>G (p.Lys491Glu) rs2102073386
NM_024529.5(CDC73):c.1472A>T (p.Lys491Ile) rs2102073388
NM_024529.5(CDC73):c.1476G>C (p.Trp492Cys) rs2102073392
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile) rs1199025166
NM_024529.5(CDC73):c.1501T>C (p.Tyr501His) rs1553292970
NM_024529.5(CDC73):c.1502A>G (p.Tyr501Cys)
NM_024529.5(CDC73):c.1506C>G (p.His502Gln)
NM_024529.5(CDC73):c.1513C>T (p.His505Tyr) rs1558326147
NM_024529.5(CDC73):c.1523G>A (p.Arg508Lys)
NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.1549A>G (p.Thr517Ala)
NM_024529.5(CDC73):c.1550C>T (p.Thr517Ile) rs1678017409
NM_024529.5(CDC73):c.1558A>G (p.Arg520Gly) rs1553292974
NM_024529.5(CDC73):c.1559+4A>T rs1001095861
NM_024529.5(CDC73):c.1562A>G (p.Tyr521Cys)
NM_024529.5(CDC73):c.1564A>C (p.Met522Leu)
NM_024529.5(CDC73):c.1586del (p.His528_Leu529insTer) rs1368184407
NM_024529.5(CDC73):c.161A>T (p.Tyr54Phe)
NM_024529.5(CDC73):c.178A>G (p.Ile60Val) rs1572142567
NM_024529.5(CDC73):c.17G>A (p.Ser6Asn)
NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)
NM_024529.5(CDC73):c.196A>G (p.Asn66Asp) rs1675542823
NM_024529.5(CDC73):c.204C>G (p.His68Gln)
NM_024529.5(CDC73):c.206T>C (p.Leu69Pro)
NM_024529.5(CDC73):c.212A>C (p.His71Pro)
NM_024529.5(CDC73):c.221A>G (p.Tyr74Cys)
NM_024529.5(CDC73):c.227G>A (p.Arg76Gln)
NM_024529.5(CDC73):c.256G>A (p.Val86Ile)
NM_024529.5(CDC73):c.261A>C (p.Arg87Ser)
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
NM_024529.5(CDC73):c.270T>A (p.Asp90Glu)
NM_024529.5(CDC73):c.280C>G (p.Leu94Val)
NM_024529.5(CDC73):c.284T>G (p.Leu95Arg)
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser) rs1060500017
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.304G>T (p.Ala102Ser) rs1675671504
NM_024529.5(CDC73):c.305C>G (p.Ala102Gly)
NM_024529.5(CDC73):c.307T>G (p.Ser103Ala)
NM_024529.5(CDC73):c.311C>T (p.Thr104Ile)
NM_024529.5(CDC73):c.314C>G (p.Ser105Trp)
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.316G>A (p.Ala106Thr)
NM_024529.5(CDC73):c.319A>G (p.Ser107Gly) rs1374821216
NM_024529.5(CDC73):c.31T>C (p.Tyr11His)
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.334G>A (p.Ala112Thr) rs952579366
NM_024529.5(CDC73):c.346A>G (p.Ile116Val)
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
NM_024529.5(CDC73):c.359G>C (p.Arg120Pro)
NM_024529.5(CDC73):c.365C>G (p.Thr122Ser)
NM_024529.5(CDC73):c.370+5G>A
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.401A>G (p.Glu134Gly)
NM_024529.5(CDC73):c.404C>G (p.Ala135Gly) rs1675778193
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.5(CDC73):c.419T>C (p.Ile140Thr)
NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)
NM_024529.5(CDC73):c.41A>G (p.Gln14Arg) rs767638609
NM_024529.5(CDC73):c.423+3A>G
NM_024529.5(CDC73):c.423+5A>G
NM_024529.5(CDC73):c.433T>C (p.Cys145Arg) rs1675832296
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys) rs2103123773
NM_024529.5(CDC73):c.476G>C (p.Gly159Ala)
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.490A>G (p.Ile164Val)
NM_024529.5(CDC73):c.512+4A>C
NM_024529.5(CDC73):c.513-11A>G
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
NM_024529.5(CDC73):c.56T>C (p.Val19Ala)
NM_024529.5(CDC73):c.578A>G (p.Lys193Arg)
NM_024529.5(CDC73):c.58G>A (p.Val20Met)
NM_024529.5(CDC73):c.593A>T (p.Lys198Met)
NM_024529.5(CDC73):c.59T>G (p.Val20Gly)
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
NM_024529.5(CDC73):c.613A>G (p.Ile205Val)
NM_024529.5(CDC73):c.617C>T (p.Thr206Ile)
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
NM_024529.5(CDC73):c.638T>G (p.Phe213Cys)
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly) rs2103126362
NM_024529.5(CDC73):c.701G>A (p.Arg234Gln)
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.70G>A (p.Glu24Lys)
NM_024529.5(CDC73):c.715C>G (p.Gln239Glu)
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala) rs1572154890
NM_024529.5(CDC73):c.729G>A (p.Lys243=)
NM_024529.5(CDC73):c.731A>C (p.Asn244Thr)
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.733T>G (p.Phe245Val) rs2103130516
NM_024529.5(CDC73):c.73G>A (p.Val25Met)
NM_024529.5(CDC73):c.743A>C (p.Asn248Thr)
NM_024529.5(CDC73):c.746T>C (p.Ile249Thr) rs973863694
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
NM_024529.5(CDC73):c.766G>A (p.Val256Ile) rs1472498930
NM_024529.5(CDC73):c.76A>G (p.Ile26Val) rs1675465327
NM_024529.5(CDC73):c.775A>G (p.Arg259Gly)
NM_024529.5(CDC73):c.793C>G (p.Pro265Ala)
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro) rs750706815
NM_024529.5(CDC73):c.808G>A (p.Ala270Thr)
NM_024529.5(CDC73):c.815A>T (p.Asn272Ile) rs752383339
NM_024529.5(CDC73):c.816T>G (p.Asn272Lys) rs2103130616
NM_024529.5(CDC73):c.818C>G (p.Ala273Gly)
NM_024529.5(CDC73):c.820G>C (p.Ala274Pro)
NM_024529.5(CDC73):c.828+2dup
NM_024529.5(CDC73):c.828+4A>G rs777621924
NM_024529.5(CDC73):c.835A>T (p.Thr279Ser)
NM_024529.5(CDC73):c.845C>A (p.Thr282Asn)
NM_024529.5(CDC73):c.845C>G (p.Thr282Ser) rs369024183
NM_024529.5(CDC73):c.847A>C (p.Lys283Gln)
NM_024529.5(CDC73):c.847A>G (p.Lys283Glu) rs1572160304
NM_024529.5(CDC73):c.848A>G (p.Lys283Arg)
NM_024529.5(CDC73):c.852G>C (p.Gln284His) rs773602413
NM_024529.5(CDC73):c.865G>A (p.Ala289Thr)
NM_024529.5(CDC73):c.872A>G (p.Asn291Ser) rs2103132204
NM_024529.5(CDC73):c.87G>C (p.Glu29Asp) rs752004076
NM_024529.5(CDC73):c.880G>C (p.Asp294His) rs2103132225
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.908-4G>A rs748472788
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp) rs2103133623
NM_024529.5(CDC73):c.922A>C (p.Lys308Gln)
NM_024529.5(CDC73):c.92C>A (p.Ser31Tyr) rs1558276199
NM_024529.5(CDC73):c.947A>G (p.His316Arg)
NM_024529.5(CDC73):c.972G>A (p.Thr324=) rs369930569
NM_024529.5(CDC73):c.973-5T>G
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser) rs2103178025
NM_024529.5(CDC73):c.977G>C (p.Gly326Ala)
NM_024529.5(CDC73):c.979G>A (p.Ala327Thr)
NM_024529.5(CDC73):c.988C>G (p.Arg330Gly)
NM_024529.5(CDC73):c.988C>T (p.Arg330Trp) rs1244272523
NM_024529.5(CDC73):c.998A>C (p.Gln333Pro)
NM_024529.5(CDC73):c.999G>T (p.Gln333His)

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