ClinVar Miner

List of variants reported as likely pathogenic for MEGF10-related myopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001256545.2(MEGF10):c.2980+1G>T rs1247305358 0.00002
NM_001256545.2(MEGF10):c.2104+1G>A rs1298663120 0.00001
NM_001256545.2(MEGF10):c.1591-6_1591-1delinsC rs1765058132
NM_001256545.2(MEGF10):c.1694-2A>G rs2126999837
NM_001256545.2(MEGF10):c.2857-2A>C
NM_001256545.2(MEGF10):c.319+1G>A
NM_001256545.2(MEGF10):c.319+1G>C rs931073338
NM_001256545.2(MEGF10):c.412+1G>T
NM_001256545.2(MEGF10):c.412+2T>C rs1561599823
NM_001256545.2(MEGF10):c.481_659+98del
NM_001256545.2(MEGF10):c.781-1G>A

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