ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.3245+149C>G rs483352965 0.00073
NM_000257.4(MYH7):c.503-4A>G rs376022200 0.00002
NM_000257.4(MYH7):c.1956+112G>A rs483352953 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.1073A>T (p.His358Leu) rs606231316
NM_000257.4(MYH7):c.1084A>T (p.Met362Leu) rs606231317
NM_000257.4(MYH7):c.1101G>T (p.Lys367Asn) rs606231318
NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr) rs606231319
NM_000257.4(MYH7):c.1245G>A (p.Gln415=) rs606231320
NM_000257.4(MYH7):c.1267G>A (p.Ala423Thr) rs606231321
NM_000257.4(MYH7):c.1291G>A (p.Val431Met) rs606231322
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.1788G>A (p.Lys596=) rs606231325
NM_000257.4(MYH7):c.1802dup (p.Asn602fs) rs672601321
NM_000257.4(MYH7):c.1830G>A (p.Gln610=) rs606231326
NM_000257.4(MYH7):c.1889-27T>A rs606231327
NM_000257.4(MYH7):c.1952A>G (p.His651Arg) rs606231328
NM_000257.4(MYH7):c.1956+114G>A rs606231330
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.2163-18G>A rs606231333
NM_000257.4(MYH7):c.2163-1G>A rs606231334
NM_000257.4(MYH7):c.2174T>C (p.Leu725Pro) rs606231335
NM_000257.4(MYH7):c.2181A>G (p.Pro727=) rs606231336
NM_000257.4(MYH7):c.2187C>A (p.Ala729=) rs672601320
NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn) rs606231340
NM_000257.4(MYH7):c.503-8C>G rs606231313
NM_000257.4(MYH7):c.639+28T>A rs606231314
NM_000257.4(MYH7):c.639+31C>A rs369187721
NM_000257.4(MYH7):c.640-1G>A rs606231315

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