ClinVar Miner

List of variants reported as likely pathogenic for Cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.67636+2T>C rs1575872984 0.00001
NM_001276345.2(TNNT2):c.163+1G>T rs113051005 0.00001
NM_001018005.2(TPM1):c.163G>T (p.Asp55Tyr) rs397516363
NM_001018005.2(TPM1):c.749A>T (p.Glu250Val) rs1596386673
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002471.4(MYH6):c.1399G>T (p.Glu467Ter) rs778808038
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955

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