List of variants studied for hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

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_018082.6(POLR3B):c.1857-2A>C	rs267608686	0.00001
NM_018082.6(POLR3B):c.2570+1G>A	rs753943393	0.00001
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

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.