ClinVar Miner

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

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) rs1246272841
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) rs121913647
NM_000257.4(MYH7):c.4598T>C (p.Leu1533Pro)

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