ClinVar Miner

List of variants in gene SELENON reported as pathogenic for SELENON-related myopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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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.1010+1G>A rs908682527 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_020451.3(SELENON):c.1209dup (p.Lys404fs) rs745715484 0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) rs760063405 0.00001
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) rs756927098 0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) rs960468382 0.00001
NM_020451.3(SELENON):c.300del (p.Ser102fs) rs1269951927 0.00001
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) rs934913626 0.00001
NM_020451.3(SELENON):c.446_447del (p.Pro149fs) rs1192828749 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NC_000001.10:g.(?_26126650)_(26126749_?)del
NC_000001.11:g.25800167_25800266del rs1572226578
NM_020451.2(SELENON):c.-55_183del rs1572226620
NM_020451.2(SELENON):c.1385G>A (p.Sec462=) rs587776597
NM_020451.3(SELENON):c.*1107T>C rs2048015293
NM_020451.3(SELENON):c.-10_135del (p.Met1fs)
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.-21_183+6del
NM_020451.3(SELENON):c.-26_12del (p.Met1fs) rs2047846279
NM_020451.3(SELENON):c.-30_64del (p.Met1fs)
NM_020451.3(SELENON):c.1069del (p.Val357fs)
NM_020451.3(SELENON):c.1086dup (p.Pro363fs) rs2124450830
NM_020451.3(SELENON):c.1168del (p.Leu390fs)
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) rs747284477
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
NM_020451.3(SELENON):c.1282-13G>A
NM_020451.3(SELENON):c.1282-1G>T
NM_020451.3(SELENON):c.1314_1317del (p.Asp438fs) rs2124452873
NM_020451.3(SELENON):c.1332_1334del (p.Asn444del) rs1553120691
NM_020451.3(SELENON):c.1384T>G rs121908187
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.142del (p.Val48fs)
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.160G>T (p.Glu54Ter) rs2047850525
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) rs1557814050
NM_020451.3(SELENON):c.180del (p.Gln61fs) rs1557814066
NM_020451.3(SELENON):c.18_46del (p.Gly7fs) rs2124436429
NM_020451.3(SELENON):c.19_47dup (p.Ala18fs) rs2047848157
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020451.3(SELENON):c.2T>C (p.Met1Thr) rs1174570887
NM_020451.3(SELENON):c.2T>G (p.Met1Arg) rs1174570887
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.404-1G>A rs1005071009
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) rs797044620
NM_020451.3(SELENON):c.4_5insCCCG (p.Gly2fs)
NM_020451.3(SELENON):c.572G>A (p.Trp191Ter) rs2047929645
NM_020451.3(SELENON):c.643del (p.Gln215fs) rs2047931126
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) rs1553120047
NM_020451.3(SELENON):c.683_689dup (p.Met230fs) rs1553120055
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs) rs2124447526
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.746_747+36del rs2047932848
NM_020451.3(SELENON):c.748-2_760del rs758934983
NM_020451.3(SELENON):c.773del (p.Met258fs)
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) rs121908182
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs) rs1572226744
NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs) rs2124436380
NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) rs1553120202
NM_020451.3(SELENON):c.963dup (p.Asp322fs)
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_020451.3(SELENON):c.9_33del (p.Ala4fs) rs886041619
Single allele

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