ClinVar Miner

List of variants studied for skeletal muscle disorder by Molecular Genetics Lab, CHRU Brest

Included ClinVar conditions (610):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)

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