ClinVar Miner

List of variants in gene MYH7 studied for MYH7-Related Disorders

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr) rs775643803 0.00001
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1481T>A (p.Phe494Tyr) rs1555338257
NM_000257.4(MYH7):c.1603G>C (p.Glu535Gln) rs2138672565
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser) rs876661215
NM_000257.4(MYH7):c.195T>G (p.Tyr65Ter) rs934278063
NM_000257.4(MYH7):c.2099A>G (p.Glu700Gly) rs1892684240
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000257.4(MYH7):c.3985dup (p.Leu1329fs) rs1566526391

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