ClinVar Miner

List of variants studied for Seckel syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.*683dup rs397718122 0.33944
NM_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
NM_001184.3(ATR):c.-91C>G rs189343119 0.00159
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343 0.00009
NM_001194998.2(CEP152):c.*231C>T rs531587783 0.00006
NM_001184.4(ATR):c.3945+2dup rs537031994 0.00004
NM_018451.5(CENPJ):c.865+12dup rs202014808 0.00004
NM_020921.4(NIN):c.5275T>C (p.Ser1759Pro) rs201212734 0.00003
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_001184.4(ATR):c.4218G>A (p.Ala1406=) rs770181975 0.00001
NM_001184.4(ATR):c.436A>G (p.Thr146Ala) rs765018743 0.00001
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_020921.4(NIN):c.4343A>T (p.Gln1448Leu) rs1440591707 0.00001
NM_001184.4(ATR):c.-29_-9delinsT rs1577732214
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184.4(ATR):c.5739-14_5739-6delinsT rs886058054
NM_001184.4(ATR):c.5899-8del rs538488507
NM_001184.4(ATR):c.7356TAG[3] (p.Ser2453dup) rs756975919
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001194998.2(CEP152):c.3683T>C (p.Met1228Thr) rs886051261
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305AAG[1] rs796638364
NM_018451.5(CENPJ):c.*404CT[1] rs141666267
NM_018451.5(CENPJ):c.*743ACTT[5] rs543069738
NM_018451.5(CENPJ):c.*83_*85del rs747303248
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_020921.4(NIN):c.5995C>T (p.Arg1999Cys)
NM_130384.3(ATRIP):c.829+2T>G rs2107215447

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.