ClinVar Miner

List of variants in gene POLR3A reported by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_007055.3(POLR3A):c.2554A>G rs267608671
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) rs267608676
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) rs267608679
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) rs267608672
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) rs267608681
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) rs267608674
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) rs267608669
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) rs267608675
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678

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.