ClinVar Miner

List of variants in gene MYH7 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln) rs727504342 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys) rs397516196 0.00001
NM_000257.4(MYH7):c.1224T>A (p.Asn408Lys) rs1057518877
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg) rs1247313340
NM_000257.4(MYH7):c.2923G>A (p.Val975Met) rs1892576769
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.5333A>C (p.His1778Pro) rs1892139406
NM_000257.4(MYH7):c.5560-2A>C rs1566521710
NM_000257.4(MYH7):c.5746C>T (p.Gln1916Ter) rs1555335933

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