ClinVar Miner

List of variants in gene CENPJ reported as uncertain significance for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP
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.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
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.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

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.