ClinVar Miner

List of variants in gene MEGF10 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.917G>A (p.Arg306Gln) rs986353158 0.00005
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg) rs387907072 0.00002
NM_001256545.2(MEGF10):c.1819C>T (p.Arg607Ter) rs1454219963 0.00001
NM_001256545.2(MEGF10):c.2362+2dup rs762560221 0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter) rs989552169 0.00001
NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter) rs200174116
NM_001256545.2(MEGF10):c.217dup (p.Arg73fs) rs1291487750
NM_001256545.2(MEGF10):c.2407del (p.Asp803fs) rs1064795948
NM_001256545.2(MEGF10):c.2411G>A (p.Cys804Tyr) rs1057523896

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