List of variants in gene ADCY6 studied for Lethal congenital contracture syndrome 8

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015270.5(ADCY6):c.1613G>A (p.Arg538His)	rs146870636	0.00005
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)	rs879253864	0.00001
NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys)	rs1941551290	0.00001
NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val)	rs1941741272
NM_015270.5(ADCY6):c.1535+1G>A	rs1941705738
NM_015270.5(ADCY6):c.520G>A (p.Ala174Thr)	rs2498614478
NM_015270.5(ADCY6):c.583_585del (p.Met195del)	rs2498613610

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.