ClinVar Miner

List of variants in gene MYH7 reported as pathogenic by Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology

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Total variants: 12
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HGVS dbSNP
NM_000257.4(MYH7):c.1073A>T (p.His358Leu) rs606231316
NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr) rs606231319
NM_000257.4(MYH7):c.1530C>A (p.Phe510Leu) rs606231323
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1952A>G (p.His651Arg) rs606231328
NM_000257.4(MYH7):c.1956+2T>G rs606231329
NM_000257.4(MYH7):c.2028del (p.Asn676fs) rs606231331
NM_000257.4(MYH7):c.2051T>G (p.Met684Arg) rs606231332
NM_000257.4(MYH7):c.2163-1G>A rs606231334
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135
NM_000257.4(MYH7):c.2366del (p.Gln789fs) rs606231337
NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn) rs606231340

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