ClinVar Miner

List of variants reported as benign for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929
NM_001184.4(ATR):c.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466
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.4835A>G (p.Asn1612Ser) rs55894265
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764
NM_001194998.2(CEP152):c.*170T>C rs2169757
NM_001194998.2(CEP152):c.*194G>A rs144469727
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.-94A>G rs2304546
NM_001194998.2(CEP152):c.1577+6G>A rs78525896
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684
NM_001194998.2(CEP152):c.191+11G>A rs75503597
NM_001194998.2(CEP152):c.2019-13G>A rs9302144
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178
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.3278G>A (p.Cys1093Tyr) rs74012142
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709
NM_001194998.2(CEP152):c.3466+8G>C rs2306187
NM_001194998.2(CEP152):c.4094-9A>T rs80090788
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302
NM_001194998.2(CEP152):c.691+9C>T rs77732888
NM_001194998.2(CEP152):c.833-4G>A rs58156069
NM_002894.3(RBBP8):c.-252C>T rs7227168
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769
NM_016350.4(NIN):c.2399+2201A>C rs12882191
NM_016350.4(NIN):c.2400-2204G>A rs2073347
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305_*307AAG[1] rs796638364
NM_018451.5(CENPJ):c.*398A>G rs11620289
NM_018451.5(CENPJ):c.*404C>T rs77868928
NM_018451.5(CENPJ):c.*570T>C rs139596189
NM_018451.5(CENPJ):c.*623A>G
NM_018451.5(CENPJ):c.*639T>C rs61947515
NM_018451.5(CENPJ):c.*683dup rs397718122
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165
NM_018451.5(CENPJ):c.3216+7A>G rs9318917
NM_018451.5(CENPJ):c.3367-12T>C rs3742163
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292
NM_020921.3(NIN):c.5800C>G (p.Gln1934Glu) rs2295847

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.