ClinVar Miner

List of variants reported as likely pathogenic for Hypertrophic cardiomyopathy 4 by ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter) rs1565623533
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs) rs2495736362
NM_000256.3(MYBPC3):c.505+1dup rs2495781550
NM_001256715.2(DNAAF3):c.331G>A (p.Glu111Lys) rs2515529863

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