ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077
NM_001267550.2(TTN):c.40558+1G>A rs368219776
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776

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