ClinVar Miner

List of variants reported as likely pathogenic for Cardiomyopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val) rs193922712 0.00006
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter) rs193922683 0.00002
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721 0.00001
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026 0.00001
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000363.5(TNNI3):c.611G>T (p.Arg204Leu)
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del) rs193922668
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter) rs1326389765
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1845_1857del (p.Ala617fs) rs2102901937
NM_170707.4(LMNA):c.639+1G>A rs869125101

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.