ClinVar Miner

List of variants in gene combination LOC126861897, MYH7 studied for Cardiovascular phenotype

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=) rs776282574 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000257.4(MYH7):c.5286C>T (p.Ala1762=) rs771432461 0.00002
NM_000257.4(MYH7):c.5221del (p.Val1741fs) rs1440353909 0.00001
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp) rs149509691 0.00001
NM_000257.4(MYH7):c.5245A>C (p.Arg1749=) rs562465062 0.00001
NM_000257.4(MYH7):c.5251G>A (p.Ala1751Thr) rs1892151210 0.00001
NM_000257.4(MYH7):c.5272G>T (p.Ala1758Ser) rs878853839 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.5228A>G (p.Glu1743Gly) rs1892152784
NM_000257.4(MYH7):c.5240A>G (p.Glu1747Gly)
NM_000257.4(MYH7):c.5245A>G (p.Arg1749Gly) rs562465062
NM_000257.4(MYH7):c.5255A>G (p.Glu1752Gly) rs730880813
NM_000257.4(MYH7):c.5272G>A (p.Ala1758Thr) rs878853839
NM_000257.4(MYH7):c.5294T>A (p.Met1765Lys) rs1595072009

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