List of variants reported as likely pathogenic for cardiomyopathy by Institute of Human Genetics, University of Goettingen

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)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000152.5(GAA):c.2772del (p.Asn925fs)
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter)	rs1114167419
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs)	rs2137946568
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr)	rs2034911718
NM_001134363.3(RBM20):c.3147del (p.Lys1050fs)	rs1844915022
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_004281.4(BAG3):c.670dup (p.Ser224fs)	rs1135402750
NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly)	rs1135401787

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.