ClinVar Miner

List of variants in gene MEGF10 reported as pathogenic for MEGF10-related myopathy

Included ClinVar conditions (1):
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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg) rs387907072 0.00002
NM_001256545.2(MEGF10):c.1559G>A (p.Trp520Ter) rs794726677 0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter) rs989552169 0.00001
NM_001256545.2(MEGF10):c.1169del (p.Gly390fs)
NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter) rs200174116
NM_001256545.2(MEGF10):c.131_132del (p.Val44fs)
NM_001256545.2(MEGF10):c.1325del (p.Pro442fs) rs794726679
NM_001256545.2(MEGF10):c.1518_1528del (p.Cys507fs) rs2126973413
NM_001256545.2(MEGF10):c.1557del (p.Trp520fs) rs1057518682
NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter) rs1580733016
NM_001256545.2(MEGF10):c.2288_2297dup (p.Asp766delinsGluArgSerTer)
NM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter) rs387907071
NM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter) rs1234596293
NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)
NM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter) rs1765909318
NM_001256545.2(MEGF10):c.2663C>G (p.Ser888Ter)
NM_001256545.2(MEGF10):c.3094del (p.Thr1032fs) rs2127045645
NM_001256545.2(MEGF10):c.3144T>G (p.Tyr1048Ter) rs794726678
NM_001256545.2(MEGF10):c.3169A>T (p.Arg1057Ter) rs1766329158
NM_001256545.2(MEGF10):c.413_659del247 (p.Cys139fs)
NM_001256545.2(MEGF10):c.480C>A (p.Cys160Ter)
NM_001256545.2(MEGF10):c.550C>T (p.Gln184Ter) rs1763927242
NM_001256545.2(MEGF10):c.702T>A (p.Cys234Ter)
NM_001256545.2(MEGF10):c.721C>T (p.Gln241Ter)
NM_001256545.2(MEGF10):c.815del (p.Arg272fs) rs2126934788
NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg) rs387907073

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