ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 1 by North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.1795G>T (p.Asp599Tyr) rs2502296670

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