List of variants in gene combination ACTC1, GJD2-DT reported as pathogenic

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

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)	rs121912673	0.00003
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)	rs121912676	0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	rs193922680	0.00001
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)	rs121912674
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)
NM_005159.5(ACTC1):c.215_231del (p.Pro72fs)	rs387906585
NM_005159.5(ACTC1):c.373A>G (p.Met125Val)	rs121912677
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)	rs727504308
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala)	rs267606628
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)	rs1566967399
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn)	rs727504399
NM_005159.5(ACTC1):c.811A>G (p.Met271Val)	rs2140429730
NM_005159.5(ACTC1):c.843del (p.Thr280_Tyr281insTer)
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)	rs121912675
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)	rs730880404
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)	rs267606629

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.