ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Klaassen Lab, Charite University Medicine Berlin

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000257.4(MYH7):c.644C>T (p.Thr215Ile) rs1892948780
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter) rs1599907512
NM_001005242.3(PKP2):c.1584del (p.Arg529fs) rs1592738654
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.85891del (p.Ala28631fs) rs1575610911
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004415.4(DSP):c.2200del (p.Arg734fs) rs2113683177
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912

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.