ClinVar Miner

List of variants in gene combination MHRT, MYH7 reported as likely pathogenic

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647 0.00002
NM_000257.4(MYH7):c.4301G>A (p.Arg1434His) rs780625785 0.00001
NM_000257.4(MYH7):c.4424G>A (p.Arg1475His) rs1176998293 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4300C>G (p.Arg1434Gly) rs730880800
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4301G>C (p.Arg1434Pro) rs780625785
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.4351A>G (p.Lys1451Glu)
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4475T>C (p.Leu1492Pro) rs1892252730
NM_000257.4(MYH7):c.4486G>A (p.Glu1496Lys)
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4520-2del rs2138644623
NM_000257.4(MYH7):c.4571A>G (p.His1524Arg) rs767148171
NM_000257.4(MYH7):c.4643A>C (p.Glu1548Ala) rs730880804

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