ClinVar Miner

List of variants in gene RNASEH2C reported as uncertain significance for Moyamoya syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_032193.3(RNASEH2C):c.*27C>G rs886048500
NM_032193.3(RNASEH2C):c.*29A>G rs886048499
NM_032193.3(RNASEH2C):c.*45_*46insG rs886048498
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.3(RNASEH2C):c.-27G>T rs549471118
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.3(RNASEH2C):c.169G>A (p.Glu57Lys)
NM_032193.3(RNASEH2C):c.173-14G>A rs886048502
NM_032193.3(RNASEH2C):c.173-4C>G rs886048501
NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly)
NM_032193.3(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526
NM_032193.3(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.3(RNASEH2C):c.348+6C>T rs779293116
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032193.3(RNASEH2C):c.434G>T (p.Arg145Leu)
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.468+5G>C rs753880827
NM_032193.3(RNASEH2C):c.468+8G>A rs751767695
NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp)
NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly)
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250

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.