ClinVar Miner

List of variants studied for cardiomyopathy by Institute of Human Genetics, University of Wuerzburg

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser) rs201917013 0.00004
NM_000257.4(MYH7):c.1000-1G>A rs113392527 0.00003
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_000257.4(MYH7):c.732+14G>C rs762982193 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001458.5(FLNC):c.352+3C>T rs750255204 0.00001
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val) rs1343869103 0.00001
NM_145046.5(CALR3):c.961G>A (p.Asp321Asn) rs143334090 0.00001
NC_000001.11:g.156115286C>T
NC_000001.11:g.77926856_77926858del
NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.2068-1G>A rs2142857371
NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter) rs2095885868
NM_000256.3(MYBPC3):c.2533C>G (p.Arg845Gly) rs727504345
NM_000256.3(MYBPC3):c.2905+1G>T
NM_000256.3(MYBPC3):c.2994+1G>A rs2095879885
NM_000256.3(MYBPC3):c.3622C>T (p.Pro1208Ser) rs2142849872
NM_000256.3(MYBPC3):c.407-9T>G rs2142868275
NM_000257.4(MYH7):c.1565A>T (p.Asp522Val) rs1595086146
NM_000257.4(MYH7):c.1572C>G (p.Ile524Met) rs769484001
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.3223C>G (p.Gln1075Glu)
NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)
NM_000257.4(MYH7):c.674C>T (p.Pro225Leu) rs1595089491
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys) rs1572596015
NM_001134363.3(RBM20):c.164A>G (p.Gln55Arg)
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001159699.2(FHL1):c.549G>C (p.Lys183Asn) rs1603271767
NM_001267550.2(TTN):c.22556_22558dup (p.Ile7519_Lys7520insIle) rs2154301633
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter) rs1574659116
NM_001267550.2(TTN):c.68022del (p.Glu22675fs) rs2047085522
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.79809dup (p.Val26604fs)
NM_001267550.2(TTN):c.81341dup (p.Asn27115fs) rs1575663327
NM_001267550.2(TTN):c.85519dup (p.Met28507fs) rs1575614351
NM_001267550.2(TTN):c.87877del (p.Arg29293fs) rs2154155591
NM_001276345.2(TNNT2):c.651G>C (p.Lys217Asn) rs1571605501
NM_001330.5(CTF1):c.465dup (p.Ala156fs) rs1218236539
NM_001458.5(FLNC):c.2504dup (p.Pro836fs) rs1554398705
NM_001458.5(FLNC):c.3275_3278delinsAAGA (p.Thr1092_Gly1093delinsLysAsp) rs1585159928
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs) rs2128936386
NM_001458.5(FLNC):c.4192A>G (p.Lys1398Glu) rs1585162066
NM_001458.5(FLNC):c.4425G>T (p.Ala1475=)
NM_001458.5(FLNC):c.4702del (p.Asp1568fs)
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe) rs1808685364
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6429G>T (p.Gln2143His)
NM_001927.4(DES):c.-2C>T
NM_002471.4(MYH6):c.2419G>C (p.Val807Leu)
NM_003280.3(TNNC1):c.130G>A (p.Val44Met) rs1706339531
NM_003476.5(CSRP3):c.282-1G>A
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.4044G>A (p.Leu1348=)
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004999.4(MYO6):c.1405G>A (p.Glu469Lys)
NM_007271.4(STK38):c.222dup (p.Glu75fs) rs1582441467
NM_014000.3(VCL):c.1382C>A (p.Ala461Asp) rs886038800
NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)
NM_017636.4(TRPM4):c.1496G>A (p.Arg499Gln) rs2122936347
NM_020433.5(JPH2):c.35G>A (p.Gly12Glu)
NM_020778.5(ALPK3):c.3842G>C (p.Arg1281Pro)
NM_022114.4(PRDM16):c.1788C>G (p.Ser596Arg) rs766972389
NM_024334.3(TMEM43):c.23C>A (p.Thr8Asn)
NM_032578.4(MYPN):c.121C>A (p.Pro41Thr) rs759400657
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_170707.4(LMNA):c.555_556del (p.Asp185fs) rs1572358674

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.