ClinVar Miner

List of variants in gene HEPACAM, HEPN1 studied for Megalencephalic leukoencephalopathy with subcortical cysts

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.*1279A>G rs3802904 0.76330
NM_152722.5(HEPACAM):c.*1206T>A rs78859654 0.07422
NM_152722.5(HEPACAM):c.*1614A>T rs79225627 0.00396
NM_152722.5(HEPACAM):c.*1852C>G rs112607377 0.00310
NM_152722.5(HEPACAM):c.*472T>G rs372662415 0.00133
NM_152722.5(HEPACAM):c.*989G>T rs886047920 0.00054
NM_152722.5(HEPACAM):c.*1476C>T rs886047918 0.00034
NM_152722.5(HEPACAM):c.*1634A>G rs1348211442 0.00004
NM_152722.5(HEPACAM):c.*709C>T rs539433968 0.00004
NM_152722.5(HEPACAM):c.*1278C>T rs201178398 0.00003
NM_152722.5(HEPACAM):c.*1799T>C rs886047917 0.00003
NM_152722.5(HEPACAM):c.*862C>A rs886047922 0.00003
NM_152722.5(HEPACAM):c.*1033A>G rs537876767 0.00002
NM_152722.5(HEPACAM):c.*727G>A rs1240266014 0.00002
NM_152722.5(HEPACAM):c.*629G>A rs886047923 0.00001
NM_152722.5(HEPACAM):c.*666G>A rs1479381777 0.00001
NM_152722.5(HEPACAM):c.*1024G>C rs1947106730
NM_152722.5(HEPACAM):c.*1235G>A rs1947101116
NM_152722.5(HEPACAM):c.*1283CCT[2] rs527377754
NM_152722.5(HEPACAM):c.*1451del rs886047919
NM_152722.5(HEPACAM):c.*1479T>C rs566864287
NM_152722.5(HEPACAM):c.*1794GTTT[3] rs560243987
NM_152722.5(HEPACAM):c.*1852C>T rs112607377
NM_152722.5(HEPACAM):c.*831G>T rs115556036
NM_152722.5(HEPACAM):c.*943G>A rs886047921

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