List of variants reported as likely pathogenic for cardiomyopathy by CSER _CC_NCGL, University of Washington

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	rs143139258	0.00029
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)	rs45478699	0.00013
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	rs372827156	0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	rs141121678	0.00005
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)	rs371061770	0.00004
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)	rs145476705	0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	rs187830361	0.00002
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	rs368765949	0.00001
NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter)	rs141735183	0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)	rs150634297	0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	rs104894727	0.00001
NM_000256.3(MYBPC3):c.852-1G>T	rs368121566
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)	rs121913010
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)	rs140474226

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.