List of variants reported as pathogenic for mandibulofacial dysostosis by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	rs191582628	0.00010
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	rs121909202
NM_000503.6(EYA1):c.1475+1G>C	rs727503042
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs)	rs2128850318
NM_000503.6(EYA1):c.1510C>T (p.Gln504Ter)
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	rs1131691667
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	rs121909195
NM_002734.5(PRKAR1A):c.709-7_709-2del	rs281864801
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs)	rs767639108

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.