ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) rs397516848 0.00001
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_001267550.2(TTN):c.33094+1G>A rs786205398
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) rs71534278

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.