ClinVar Miner

List of variants studied for Seckel syndrome 5 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_001194998.2(CEP152):c.*170T>C rs2169757
NM_001194998.2(CEP152):c.*194G>A rs144469727
NM_001194998.2(CEP152):c.*255T>C rs187213125
NM_001194998.2(CEP152):c.*33A>G
NM_001194998.2(CEP152):c.*51G>A
NM_001194998.2(CEP152):c.*73A>C rs886051259
NM_001194998.2(CEP152):c.*7T>C
NM_001194998.2(CEP152):c.-105G>A rs886051267
NM_001194998.2(CEP152):c.-10C>G rs886051266
NM_001194998.2(CEP152):c.-24A>T rs62621137
NM_001194998.2(CEP152):c.-25C>A rs185424999
NM_001194998.2(CEP152):c.-26A>T rs35871801
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001194998.2(CEP152):c.-94A>G rs2304546
NM_001194998.2(CEP152):c.1100C>A (p.Thr367Lys)
NM_001194998.2(CEP152):c.1111G>A (p.Glu371Lys)
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.133G>A (p.Asp45Asn) rs200227733
NM_001194998.2(CEP152):c.133G>C (p.Asp45His)
NM_001194998.2(CEP152):c.1577+6G>A rs78525896
NM_001194998.2(CEP152):c.1578-6C>G rs80239443
NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln)
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_001194998.2(CEP152):c.1650A>G (p.Val550=)
NM_001194998.2(CEP152):c.172G>A (p.Glu58Lys)
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684
NM_001194998.2(CEP152):c.191+11G>A rs75503597
NM_001194998.2(CEP152):c.192A>C (p.Gln64His)
NM_001194998.2(CEP152):c.2019-13G>A rs9302144
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.2378G>T (p.Ser793Ile) rs2289178
NM_001194998.2(CEP152):c.2438T>C (p.Ile813Thr)
NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met) rs886051263
NM_001194998.2(CEP152):c.2647G>A (p.Glu883Lys)
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560
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.2826C>T (p.Asn942=) rs200733310
NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp)
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.2939G>A (p.Arg980Gln)
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.3317T>C (p.Val1106Ala) rs16961557
NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) rs537168507
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709
NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=) rs200018103
NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu) rs199917740
NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=) rs138151279
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.3466+8G>C rs2306187
NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766
NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala)
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.3800G>A (p.Arg1267His)
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.4242G>A (p.Arg1414=)
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678
NM_001194998.2(CEP152):c.4320T>C (p.His1440=)
NM_001194998.2(CEP152):c.438T>A (p.Leu146=)
NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=) rs370000548
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser)
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala)
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073
NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=)
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683
NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met)
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.5078C>T (p.Pro1693Leu) rs368764302
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042
NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile)
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_001194998.2(CEP152):c.691+9C>T rs77732888
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824
NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn)
NM_001194998.2(CEP152):c.833-4G>A rs58156069
NM_001194998.2(CEP152):c.87G>A (p.Glu29=)
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_001194998.2(CEP152):c.982A>C (p.Lys328Gln) rs201942310
NM_014985.3(CEP152):c.-130C>T rs548247909
NM_014985.3(CEP152):c.-164T>C rs886051268

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