ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.1217_1218del (p.Val406fs) rs1892824277
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met) rs1348730180
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628

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