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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007078.3(LDB3):c.690-4A>G	rs45529531	0.00427
NM_000371.4(TTR):c.336+19G>A	rs75517067	0.00309
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)	rs138073811	0.00264
NM_033337.3(CAV3):c.417C>T (p.Val139=)	rs147250678	0.00043
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=)	rs193922378	0.00032
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)	rs45577134	0.00026
NM_000335.5(SCN5A):c.5181C>T (p.Cys1727=)	rs193922726	0.00011
NM_170707.4(LMNA):c.357-20C>T	rs193922724	0.00004
NM_002471.4(MYH6):c.5508A>G (p.Ala1836=)	rs193922654	0.00001
NM_000039.3(APOA1):c.162G>C (p.Val54=)	rs193922099
NM_000432.4(MYL2):c.353+33C>G	rs193922453
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=)	rs146967918
NM_001103.4(ACTN2):c.2577C>T (p.Ala859=)	rs193922636
NM_002471.4(MYH6):c.3979-8del	rs193922652
NM_004415.4(DSP):c.6153C>G (p.Ala2051=)	rs193922670
NM_024422.6(DSC2):c.942+16A>T	rs111347888

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.