List of variants in gene AARS1 studied for ectodermal dysplasia syndrome

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)	rs35744709	0.00971
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)	rs117598688	0.00646
NM_001605.3(AARS1):c.1672-4T>A	rs187509039	0.00236
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)	rs141840552	0.00137
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)	rs181264712	0.00067
NM_001605.3(AARS1):c.959G>A (p.Arg320His)	rs557600847	0.00004
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)	rs749039663	0.00003
NM_001605.3(AARS1):c.1007A>G (p.His336Arg)	rs1025002934	0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)	rs144982168	0.00001
NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile)	rs769394060	0.00001
NM_001605.3(AARS1):c.-21-11dup	rs756492963
NM_001605.3(AARS1):c.1993-1G>A
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr)	rs769778018
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala)	rs1312337697
NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr)	rs2152149706
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu)	rs147424208
NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)

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.