List of variants in gene SPECC1L, SPECC1L-ADORA2A studied for Tessier number 4 facial cleft

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met)	rs204718	0.99996
NM_015330.6(SPECC1L):c.2560+46C>T	rs5760351	0.55421
NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)	rs3747113	0.22461
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe)	rs56168869	0.00780
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=)	rs143055101	0.00343
NM_015330.6(SPECC1L):c.153+5T>G	rs143374533	0.00265
NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala)	rs6004132	0.00133
NM_015330.6(SPECC1L):c.1244A>C (p.Gln415Pro)	rs387907108
NM_015330.6(SPECC1L):c.2454G>A (p.Leu818=)	rs2041009092

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.