ClinVar Miner

List of variants in gene SELENON reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.1011-1G>C rs1333001112
NM_020451.3(SELENON):c.302-1G>C
NM_020451.3(SELENON):c.302-2_302-1del
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.538-1G>A rs2047928865
NM_020451.3(SELENON):c.538-1G>C rs2047928865
NM_020451.3(SELENON):c.748-2_760del rs758934983
NM_020451.3(SELENON):c.873-2A>G rs1176143542

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