ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe) rs1892789510
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_001122630.2(CDKN1C):c.289_292del (p.Pro97fs)
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs)
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.56679dup (p.Ser18894Ter) rs2052563186
NM_001267550.2(TTN):c.84504dup (p.Ser28169fs)
NM_001267550.2(TTN):c.87077del (p.Pro29026fs)
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)
NM_001943.5(DSG2):c.1211C>G (p.Ser404Ter)
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer) rs727503559
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_022114.4(PRDM16):c.2134C>T (p.Gln712Ter)
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704

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