ClinVar Miner

List of variants reported as pathogenic for SELENON-related myopathy by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020451.2(SELENON):c.1385G>A (p.Sec462=) rs587776597
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.1168del (p.Leu390fs)
NM_020451.3(SELENON):c.1384T>G rs121908187
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) rs121908182
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs) rs1572226744

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