ClinVar Miner

List of variants in gene combination KAT5, RNASEH2C reported as uncertain significance for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.*1699G>C rs149989742 0.00233
NM_032193.4(RNASEH2C):c.*317C>T rs549238084 0.00110
NM_032193.4(RNASEH2C):c.*1594G>A rs761492773 0.00064
NM_032193.4(RNASEH2C):c.*456G>A rs561937926 0.00053
NM_032193.4(RNASEH2C):c.*363C>T rs547082810 0.00040
NM_032193.4(RNASEH2C):c.*1737C>T rs886048487 0.00029
NM_032193.4(RNASEH2C):c.*1977C>T rs886048482 0.00018
NM_032193.4(RNASEH2C):c.*385C>A rs757672652 0.00016
NM_032193.4(RNASEH2C):c.*440G>C rs544558074 0.00016
NM_032193.4(RNASEH2C):c.*747G>A rs201326733 0.00015
NM_032193.4(RNASEH2C):c.*1658G>C rs886048488 0.00013
NM_032193.4(RNASEH2C):c.*1532G>A rs376966597 0.00005
NM_032193.4(RNASEH2C):c.*541C>T rs756513194 0.00005
NM_032193.4(RNASEH2C):c.*1504G>A rs886048489 0.00002
NM_032193.4(RNASEH2C):c.*1778C>G rs886048485 0.00002
NM_032193.4(RNASEH2C):c.*223G>A rs886048497 0.00002
NM_032193.4(RNASEH2C):c.*940A>G rs767097041 0.00002
NM_032193.4(RNASEH2C):c.*374T>G rs533143132 0.00001
NM_032193.4(RNASEH2C):c.*719T>G rs886048492 0.00001
NM_032193.4(RNASEH2C):c.*1217G>C rs886048490
NM_032193.4(RNASEH2C):c.*1378G>C rs746434462
NM_032193.4(RNASEH2C):c.*1768C>T rs886048486
NM_032193.4(RNASEH2C):c.*1806G>A rs886048484
NM_032193.4(RNASEH2C):c.*1831G>A rs886048483
NM_032193.4(RNASEH2C):c.*451C>T rs886048496
NM_032193.4(RNASEH2C):c.*532C>G rs886048495
NM_032193.4(RNASEH2C):c.*560C>T rs886048494
NM_032193.4(RNASEH2C):c.*706T>A rs886048493
NM_032193.4(RNASEH2C):c.*862A>C rs886048491

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.