List of variants in gene ATRX reported by Athena Diagnostics Inc

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.2785= (p.Glu929=)	rs3088074	0.49116
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00663
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)	rs61758732	0.00137
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile)	rs144527582	0.00037
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)	rs142180002	0.00024
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)	rs191563592	0.00009
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)	rs61752457	0.00006
NM_000489.6(ATRX):c.6018T>A (p.Val2006=)	rs781802180	0.00005
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=)	rs782703242	0.00003
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala)	rs1557141862	0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)	rs1418531949	0.00002
NM_000489.6(ATRX):c.1449A>G (p.Gln483=)	rs1472962089	0.00001
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)	rs61752455
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del)	rs1557117424
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=)	rs2064850147

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.