ClinVar Miner

List of variants reported as likely benign for SEPN1-Related Disorders

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.*2336A>T rs1044183 0.04632
NM_020451.3(SELENON):c.*646A>G rs12072426 0.02628
NM_020451.3(SELENON):c.*780C>T rs11556312 0.02090
NM_020451.3(SELENON):c.*771G>A rs80311079 0.01848
NM_020451.3(SELENON):c.*2312T>C rs58878991 0.01325
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_020451.3(SELENON):c.*938C>T rs116835124 0.00453
NM_020451.3(SELENON):c.*44G>T rs116931343 0.00258
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_020451.3(SELENON):c.*855C>T rs367601736 0.00227
NM_020451.3(SELENON):c.*63C>T rs192411588 0.00145
NM_020451.3(SELENON):c.*1306G>A rs117198314 0.00138
NM_020451.3(SELENON):c.*316C>T rs570071091 0.00017
NM_020451.3(SELENON):c.*1944T>C rs144897178 0.00014
NM_020451.3(SELENON):c.*1831A>G rs186501242 0.00004
NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly) rs562843129 0.00001
NM_020451.3(SELENON):c.*2234_*2236del rs371383269
NM_020451.3(SELENON):c.*2283_*2285del rs376975577
NM_020451.3(SELENON):c.*267C>A rs184807941

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