List of variants studied for cardiomyopathy by Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.821+1G>A	rs397516073	0.00001
NM_001267550.2(TTN):c.103585G>T (p.Glu34529Ter)
NM_002834.5(PTPN11):c.501G>C (p.Val167=)
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg)	rs1135401776
NM_152594.3(SPRED1):c.700dup (p.Ile234fs)
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter)	rs1566876690
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)	rs56699480

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.