ClinVar Miner

List of variants studied for Laing early-onset distal myopathy by Neurogenetics Laboratory,Royal Perth Hospital

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_000257.3(MYH7):c.4442T>C (p.Leu1481Pro) rs587779414
NM_000257.3(MYH7):c.4522_4524delGAG (p.Glu1508del) rs397516220
NM_000257.3(MYH7):c.4622A>C (p.Gln1541Pro) rs587779389
NM_000257.3(MYH7):c.4795A>C (p.Thr1599Pro) rs587779390
NM_000257.3(MYH7):c.4823G>C (p.Arg1608Pro) rs587779391
NM_000257.3(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.3(MYH7):c.4850_4852delAGA (p.Lys1617del) rs121913648
NM_000257.3(MYH7):c.4906G>C (p.Ala1636Pro) rs587779415
NM_000257.3(MYH7):c.4937T>C (p.Leu1646Pro) rs587779393
NM_000257.3(MYH7):c.4985G>C (p.Arg1662Pro) rs370328209
NM_000257.3(MYH7):c.5005_5007delGAG (p.Glu1669del) rs587779394
NM_000257.3(MYH7):c.5186_5188dupAGA (p.Lys1729_Met1730insLys) rs367543052
NM_000257.3(MYH7):c.5378_5380delTGC (p.Leu1793del) rs587779396
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254

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