ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) rs1057518968 0.00002
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000152.5(GAA):c.1194+5G>A rs2039153749
NM_000152.5(GAA):c.461G>C (p.Arg154Pro) rs781124934
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_001005242.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter) rs992189342
NM_001035.3(RYR2):c.10209dup (p.Ile3404fs) rs1688657241
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.893_908del (p.Phe298fs) rs1808153476
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_004006.3(DMD):c.177del (p.Gln60fs) rs1057518834
NM_004006.3(DMD):c.9980_9981insTAG (p.Tyr3326_Arg3327insSer) rs2041040360
NM_153741.2(DPM3):c.137T>A (p.Leu46Gln) rs1057518905

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.