ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_000257.4(MYH7):c.2771A>G (p.Glu924Gly) rs1566530698
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg) rs1573911397
NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile) rs1695315646
NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys) rs1288202574
NM_001035.3(RYR2):c.12455T>A (p.Ile4152Asn) rs1695358851
NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys) rs1695363148
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del) rs1558405887
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del) rs1573997412
NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr) rs2102947618
NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile) rs1663792524
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile) rs2148707460
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly) rs1681104142
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter) rs1554898987
NM_001134363.3(RBM20):c.1385del (p.Ala462fs) rs2135050138
NM_001267550.2(TTN):c.102749del (p.Thr34250fs) rs2154135490
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) rs1553754743
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs) rs1553703310
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs) rs1218695159
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter) rs1553659902
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs) rs1553565316
NM_001267550.2(TTN):c.94371del (p.Glu31458fs) rs1553524807
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
NM_004281.4(BAG3):c.1418dup (p.Ala474fs) rs1589632876
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_020778.5(ALPK3):c.432_435dup (p.Asp146fs)
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg) rs1553265180

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.