ClinVar Miner

List of variants reported for Hypertrophic cardiomyopathy 4 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2096delC rs397515947
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)

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