ClinVar Miner

List of variants studied for POLR3-related leukodystrophy by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter) rs1376632879 0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) rs763270865 0.00001
NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly) rs1307896663
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) rs751735990
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg) rs1259778579
NM_007055.4(POLR3A):c.346A>G (p.Met116Val)
NM_007055.4(POLR3A):c.3736ACC[3] (p.Thr1247_Ser1248insThr)
NM_007055.4(POLR3A):c.3826G>A (p.Val1276Met)
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) rs1378008503

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.