ClinVar Miner

List of variants in gene combination MHRT, MYH7 reported as pathogenic for Myopathy, distal, 1

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Total variants: 20
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HGVS dbSNP
NM_000257.3(MYH7):c.4522_4524delGAG (p.Glu1508del) rs397516220
NM_000257.4(MYH7):c.4315G>C (p.Ala1439Pro) rs797044599
NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro) rs587779414
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) rs121913647
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro) rs587779389
NM_000257.4(MYH7):c.4763G>C (p.Arg1588Pro) rs797044600
NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) rs730880808
NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro) rs587779390
NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro) rs730880809
NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro) rs587779391
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.4(MYH7):c.4844_4846AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro) rs587779415
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) rs587779393
NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro) rs370328209
NM_000257.4(MYH7):c.4987G>C (p.Ala1663Pro) rs797044601
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del) rs587779394
NM_000257.4(MYH7):c.5117T>C (p.Leu1706Pro) rs797044602
NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5177_5179AGA[5] (p.Lys1729dup) rs367543052

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