List of variants reported as pathogenic for Arthrogryposis, distal, type 1A by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	rs104894129	0.00001
NM_003289.4(TPM2):c.70C>T (p.Gln24Ter)	rs201987709	0.00001
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	rs137853306
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	rs199476146
NM_003289.4(TPM2):c.220del (p.Ala74fs)	rs2490700207
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)	rs137853305
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	rs199476153
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)	rs1563929039
NM_003289.4(TPM2):c.628C>T (p.Gln210Ter)	rs199476154
NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter)	rs1465836003

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.