ClinVar Miner

List of variants studied for MYH7-related skeletal myopathy by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) rs1595074765

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