List of variants in gene POLR1D studied for mandibulofacial dysostosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152705.3(POLR1D):c.249G>A (p.Pro83=)	rs14105	0.37744
NM_015972.4(POLR1D):c.329T>C (p.Val110Ala)	rs138256149	0.00093
NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys)	rs767196650
NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg)	rs1593275448
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val)	rs587777841
NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala)	rs1955966967
NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter)	rs1593275599
NM_015972.4(POLR1D):c.261del (p.Gly88fs)	rs2138519077
NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs)	rs1593275616
NM_015972.4(POLR1D):c.326_327del (p.His109fs)	rs2138519194
NM_015972.4(POLR1D):c.388G>T (p.Glu130Ter)
NM_015972.4(POLR1D):c.60dup (p.Gly21fs)
NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs)	rs1593275363
NM_015972.4(POLR1D):c.89_117del (p.Val30fs)
NM_152705.3(POLR1D):c.219G>C (p.Ala73=)	rs11029

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.