ClinVar Miner

List of variants studied for MEGF10-related myopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu) rs199702225 0.00001
NM_001256545.2(MEGF10):c.1041C>T (p.Gly347=)
NM_001256545.2(MEGF10):c.2857-14T>A

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