ClinVar Miner

List of variants reported as likely pathogenic for Hypertrophic cardiomyopathy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000256.3(MYBPC3):c.2994+1G>A rs2095879885
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_003280.3(TNNC1):c.130G>A (p.Val44Met) rs1706339531
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034

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