ClinVar Miner

List of variants reported as uncertain significance for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 216
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HGVS dbSNP
NM_001184.3(ATR):c.-91C>G rs189343119
NM_001184.3(ATR):c.4153-10dupT rs112116713
NM_001184.3(ATR):c.5899-8delT rs538488507
NM_001184.4(ATR):c.*72T>G rs750327573
NM_001184.4(ATR):c.-29_-9delinsT rs886058060
NM_001184.4(ATR):c.1006C>T (p.Arg336Trp) rs886058056
NM_001184.4(ATR):c.1318C>T (p.Pro440Ser) rs535140939
NM_001184.4(ATR):c.1350-3T>C rs587783323
NM_001184.4(ATR):c.152-9T>C rs748613519
NM_001184.4(ATR):c.1784C>T (p.Ser595Leu) rs747451103
NM_001184.4(ATR):c.1885+7G>A rs74282951
NM_001184.4(ATR):c.1903C>T (p.Arg635Ter) rs1378333855
NM_001184.4(ATR):c.190A>G (p.Thr64Ala) rs35306038
NM_001184.4(ATR):c.2205C>T (p.His735=) rs148955716
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945
NM_001184.4(ATR):c.225C>T (p.Ile75=) rs886058059
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665
NM_001184.4(ATR):c.2503T>C (p.Leu835=) rs377134163
NM_001184.4(ATR):c.2532+4G>A rs190596919
NM_001184.4(ATR):c.260G>T (p.Ser87Ile) rs200407265
NM_001184.4(ATR):c.2634-1G>A rs372271245
NM_001184.4(ATR):c.2653G>A (p.Val885Ile) rs141606250
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863
NM_001184.4(ATR):c.292+15T>G rs886058058
NM_001184.4(ATR):c.3152G>A (p.Arg1051His)
NM_001184.4(ATR):c.3241C>T (p.Leu1081=) rs139173669
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479
NM_001184.4(ATR):c.3497A>C (p.His1166Pro) rs201438783
NM_001184.4(ATR):c.3642T>C (p.His1214=) rs139078985
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383
NM_001184.4(ATR):c.3945+2dup rs537031994
NM_001184.4(ATR):c.4218G>A (p.Ala1406=) rs770181975
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp) rs587783328
NM_001184.4(ATR):c.431T>G (p.Val144Gly) rs749942139
NM_001184.4(ATR):c.4323A>G (p.Gln1441=) rs56100509
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542
NM_001184.4(ATR):c.436A>G (p.Thr146Ala) rs765018743
NM_001184.4(ATR):c.4382+6T>C rs758074436
NM_001184.4(ATR):c.4407C>T (p.Thr1469=) rs201300027
NM_001184.4(ATR):c.4641+15C>T rs200619976
NM_001184.4(ATR):c.4677C>T (p.Asp1559=) rs112726878
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267
NM_001184.4(ATR):c.489T>C (p.Asn163=) rs886058057
NM_001184.4(ATR):c.5052T>C (p.His1684=) rs150810277
NM_001184.4(ATR):c.5349G>T (p.Gln1783His) rs886058055
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg) rs367898142
NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser) rs587783334
NM_001184.4(ATR):c.5739-14G>T rs587783335
NM_001184.4(ATR):c.5739-14_5739-6delinsT rs886058054
NM_001184.4(ATR):c.59+4G>A rs758046042
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560
NM_001184.4(ATR):c.6078+10T>C rs762754313
NM_001184.4(ATR):c.6079-14G>A rs886058053
NM_001184.4(ATR):c.6090G>A (p.Ala2030=) rs201988169
NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln) rs886058052
NM_001184.4(ATR):c.6221+3G>A rs200980335
NM_001184.4(ATR):c.6226C>G (p.Leu2076Val) rs372864251
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909
NM_001184.4(ATR):c.6896T>C (p.Met2299Thr) rs145119827
NM_001184.4(ATR):c.6960G>A (p.Lys2320=) rs752654793
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) rs587783338
NM_001184.4(ATR):c.7041+4G>C rs113544835
NM_001184.4(ATR):c.7356_7358TAG[3] (p.Ser2453dup) rs756975919
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile) rs556313656
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116
NM_001184.4(ATR):c.7725G>A (p.Ala2575=) rs587783340
NM_001194998.2(CEP152):c.*194G>A rs144469727
NM_001194998.2(CEP152):c.*231C>T rs531587783
NM_001194998.2(CEP152):c.*255T>C rs187213125
NM_001194998.2(CEP152):c.*73A>C rs886051259
NM_001194998.2(CEP152):c.-105G>A rs886051267
NM_001194998.2(CEP152):c.-10C>G rs886051266
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe) rs886051265
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001194998.2(CEP152):c.1185C>T (p.Cys395=) rs377258492
NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe) rs776999918
NM_001194998.2(CEP152):c.1578-6C>G rs80239443
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) rs199690309
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738
NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met) rs886051263
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.2901A>G (p.Glu967=) rs886051262
NM_001194998.2(CEP152):c.2928G>A (p.Glu976=) rs771359060
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953
NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) rs537168507
NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=) rs200018103
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766
NM_001194998.2(CEP152):c.3683T>C (p.Met1228Thr) rs886051261
NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu) rs778040674
NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) rs199777941
NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His) rs886051260
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199
NM_001194998.2(CEP152):c.4094-9A>T rs80090788
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) rs186930123
NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=) rs370000548
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683
NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg) rs776286310
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) rs374200686
NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His) rs771595097
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615
NM_001194998.2(CEP152):c.930A>T (p.Ala310=) rs779255588
NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) rs556609167
NM_002894.3(RBBP8):c.*168T>A rs551351149
NM_002894.3(RBBP8):c.*223C>T rs535463636
NM_002894.3(RBBP8):c.*97G>C rs777642288
NM_002894.3(RBBP8):c.-102G>A rs886053658
NM_002894.3(RBBP8):c.-134G>A rs144559748
NM_002894.3(RBBP8):c.-165C>G rs886053657
NM_002894.3(RBBP8):c.-180G>A rs529532376
NM_002894.3(RBBP8):c.-208G>C rs886053656
NM_002894.3(RBBP8):c.-225G>C rs570452407
NM_002894.3(RBBP8):c.-250G>A rs115479920
NM_002894.3(RBBP8):c.-253G>A rs886053655
NM_002894.3(RBBP8):c.-265C>T rs886053654
NM_002894.3(RBBP8):c.-269C>T rs886053653
NM_002894.3(RBBP8):c.-57T>C rs181038099
NM_002894.3(RBBP8):c.-83A>G rs886053659
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) rs121434388
NM_002894.3(RBBP8):c.110-15C>T rs201687908
NM_002894.3(RBBP8):c.1260T>C (p.Asn420=) rs886053660
NM_002894.3(RBBP8):c.1290T>A (p.Thr430=) rs74565999
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg) rs139743319
NM_002894.3(RBBP8):c.1386A>G (p.Gln462=) rs112405175
NM_002894.3(RBBP8):c.1632G>A (p.Thr544=) rs371151302
NM_002894.3(RBBP8):c.1644T>C (p.Asp548=) rs34780140
NM_002894.3(RBBP8):c.1813-9C>A rs529873737
NM_002894.3(RBBP8):c.1902T>C (p.Cys634=) rs201620586
NM_002894.3(RBBP8):c.1967G>A (p.Ser656Asn) rs533709575
NM_002894.3(RBBP8):c.2142A>T (p.Ser714=) rs886053661
NM_002894.3(RBBP8):c.2399G>A (p.Arg800Gln) rs759365253
NM_002894.3(RBBP8):c.2455-4T>G rs374660795
NM_002894.3(RBBP8):c.248+12A>C rs144411132
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln) rs140196819
NM_002894.3(RBBP8):c.2630G>A (p.Arg877His) rs201195506
NM_002894.3(RBBP8):c.348T>C (p.Leu116=) rs746385731
NM_002894.3(RBBP8):c.684T>C (p.Tyr228=) rs199995388
NM_002894.3(RBBP8):c.891A>G (p.Glu297=) rs140403315
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343
NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys)
NM_014985.3(CEP152):c.-130C>T rs548247909
NM_014985.3(CEP152):c.-164T>C rs886051268
NM_018451.4(CENPJ):c.2992-18_2992-17delGT rs151246139
NM_018451.4(CENPJ):c.2992-6dupT rs35599563
NM_018451.5(CENPJ):c.*124G>A rs886050097
NM_018451.5(CENPJ):c.*267G>A rs886050096
NM_018451.5(CENPJ):c.*292A>T rs886050095
NM_018451.5(CENPJ):c.*303C>A rs886050094
NM_018451.5(CENPJ):c.*464A>G rs886050093
NM_018451.5(CENPJ):c.*520A>G rs547113186
NM_018451.5(CENPJ):c.*541T>C rs533142063
NM_018451.5(CENPJ):c.*569A>G rs544072060
NM_018451.5(CENPJ):c.*570T>C rs139596189
NM_018451.5(CENPJ):c.*594_*595dup rs570468323
NM_018451.5(CENPJ):c.*743_*746ACTT[5] rs543069738
NM_018451.5(CENPJ):c.*779A>T rs183612636
NM_018451.5(CENPJ):c.*783C>T rs886050092
NM_018451.5(CENPJ):c.*83_*85del rs747303248
NM_018451.5(CENPJ):c.*890T>C rs17480581
NM_018451.5(CENPJ):c.-148C>T rs376883999
NM_018451.5(CENPJ):c.-24A>G rs780644943
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691
NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu) rs371842504
NM_018451.5(CENPJ):c.1934G>A (p.Arg645His) rs773079639
NM_018451.5(CENPJ):c.195C>T (p.Phe65=) rs775969767
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921
NM_018451.5(CENPJ):c.2111C>T (p.Thr704Ile) rs768682361
NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu) rs886050100
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=) rs148738982
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025
NM_018451.5(CENPJ):c.2785A>G (p.Lys929Glu) rs141844033
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861
NM_018451.5(CENPJ):c.2826-6T>C rs886050099
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304
NM_018451.5(CENPJ):c.3003G>A (p.Gln1001=) rs886050098
NM_018451.5(CENPJ):c.3068G>A (p.Arg1023His) rs146950242
NM_018451.5(CENPJ):c.3618+7T>C rs769845659
NM_018451.5(CENPJ):c.3619-12G>T rs527997591
NM_018451.5(CENPJ):c.3769C>A (p.Pro1257Thr) rs201774037
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile) rs144251950
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile) rs140564566
NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser) rs201508087
NM_018451.5(CENPJ):c.3943G>C (p.Glu1315Gln) rs761333511
NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=) rs113239817
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824
NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro) rs886050102
NM_018451.5(CENPJ):c.444+3A>G rs587783411
NM_018451.5(CENPJ):c.504A>G (p.Leu168=) rs886050101
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197
NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu) rs201219786
NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu) rs566700308
NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala) rs770285570
NM_018451.5(CENPJ):c.777G>T (p.Ala259=) rs748696673
NM_018451.5(CENPJ):c.865+12dup rs202014808
NM_033661.4(WDR4):c.[491A>C];[940dup]

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