ClinVar Miner

List of variants studied for POLR3-related leukodystrophy by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) rs371802902 0.00003
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682 0.00002
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127 0.00002
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) rs267608681
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) rs267608683
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) rs267608685
NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln) rs775141057
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) rs267608689
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe) rs2136887072
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) rs796052125
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) rs796052126
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del) rs875989826
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) rs796052124

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.