List of variants in gene combination ABCA12, SNHG31 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)	rs726070	0.02279
NM_173076.3(ABCA12):c.6962+5G>A	rs201877187	0.00033
NM_173076.3(ABCA12):c.6305A>T (p.Tyr2102Phe)	rs770806176	0.00003
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)	rs137853289	0.00001
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)	rs199503269	0.00001
NM_173076.3(ABCA12):c.6781_6782dup (p.Thr2262fs)	rs2469146553
NM_173076.3(ABCA12):c.7172G>C (p.Ser2391Thr)
NM_173076.3(ABCA12):c.7222C>T (p.Pro2408Ser)
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)	rs761068277
NM_173076.3(ABCA12):c.7680+5G>T

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.