ClinVar Miner

List of variants in gene combination LOC126861897, MYH7 reported as uncertain significance for Cardiomyopathy

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Total variants: 24
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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.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000257.4(MYH7):c.5283+7C>T rs772148835 0.00002
NM_000257.4(MYH7):c.5216C>T (p.Thr1739Ile) rs1469341108 0.00001
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.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.5284-3C>T rs759821521 0.00001
NM_000257.4(MYH7):c.5293A>G (p.Met1765Val) rs770165807 0.00001
NM_000257.4(MYH7):c.5221G>A (p.Val1741Met) rs1255832799
NM_000257.4(MYH7):c.5225A>G (p.Glu1742Gly) rs2502240985
NM_000257.4(MYH7):c.5228A>G (p.Glu1743Gly) rs1892152784
NM_000257.4(MYH7):c.5236C>A (p.Gln1746Lys)
NM_000257.4(MYH7):c.5267A>G (p.Lys1756Arg) rs1566522855
NM_000257.4(MYH7):c.5270A>G (p.Lys1757Arg) rs2138639265
NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys) rs727505294
NM_000257.4(MYH7):c.5281del (p.Asp1761fs)
NM_000257.4(MYH7):c.5283T>G (p.Asp1761Glu) rs1892149011
NM_000257.4(MYH7):c.5291T>C (p.Met1764Thr) rs1284464290
NM_000257.4(MYH7):c.5294T>A (p.Met1765Lys) rs1595072009
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) rs267606909

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