ClinVar Miner

List of variants reported as benign for MEGF10-related myopathy

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.1114C>T (p.Leu372=) rs31483 0.94572
NM_001256545.2(MEGF10):c.*209C>G rs10793809 0.74642
NM_001256545.2(MEGF10):c.*2236C>A rs3756722 0.73822
NM_001256545.2(MEGF10):c.3387T>A (p.Gly1129=) rs3812052 0.48209
NM_001256545.2(MEGF10):c.-122G>A rs2032834 0.38334
NM_001256545.2(MEGF10):c.*2149G>A rs3756721 0.24708
NM_001256545.2(MEGF10):c.660-3C>T rs6595769 0.19743
NM_001256545.2(MEGF10):c.1785T>C (p.Pro595=) rs11950427 0.19610
NM_001256545.2(MEGF10):c.588G>A (p.Gln196=) rs3812055 0.16961
NM_001256545.2(MEGF10):c.3215G>A (p.Arg1072Lys) rs17164935 0.14236
NM_001256545.2(MEGF10):c.616G>A (p.Val206Ile) rs3812054 0.10861
NM_001256545.2(MEGF10):c.*625A>G rs72790451 0.10347
NM_001256545.2(MEGF10):c.*1246C>T rs17164925 0.07027
NM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=) rs17164938 0.03315
NM_001256545.2(MEGF10):c.116+10T>C rs10519949 0.02763
NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=) rs35591368 0.02614
NM_001256545.2(MEGF10):c.2076C>T (p.Pro692=) rs115309591 0.01810
NM_001256545.2(MEGF10):c.984C>T (p.Asn328=) rs35550094 0.01638
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=) rs56157640 0.01628
NM_001256545.2(MEGF10):c.1841-20G>A rs79904777 0.01625
NM_001256545.2(MEGF10):c.-19+8943A>G rs79967765 0.00953
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=) rs113794264 0.00845
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His) rs78847357 0.00577
NM_001256545.2(MEGF10):c.489C>T (p.Ile163=) rs34649270 0.00577
NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=) rs36061366 0.00492
NM_001256545.2(MEGF10):c.303C>T (p.Ser101=) rs77203884 0.00260
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482 0.00254
NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=) rs146075981 0.00243
NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=) rs139929890 0.00229
NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu) rs116500162 0.00227
NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=) rs35159176 0.00207
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg) rs140563851 0.00178
NM_001256545.2(MEGF10):c.2034C>T (p.Asn678=) rs117124929 0.00145
NM_001256545.2(MEGF10):c.2857-8T>G rs201148765 0.00117
NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=) rs114704569 0.00116
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820 0.00098
NM_001256545.2(MEGF10):c.117-5_117-4insC rs538399152 0.00081
NM_001256545.2(MEGF10):c.2104+20A>C rs528070018 0.00034
NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=) rs558369303 0.00006
NM_001256545.2(MEGF10):c.522G>A (p.Arg174=) rs201076330 0.00005
NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=) rs528654275 0.00004
NM_001256545.2(MEGF10):c.3354C>G (p.Asp1118Glu) rs372767788 0.00003
NM_001256545.2(MEGF10):c.*3575T>G rs2898043
NM_001256545.2(MEGF10):c.174G>A (p.Thr58=) rs12654455
NM_001256545.2(MEGF10):c.1976-7T>G

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