List of variants in gene SELENON studied for SEPN1-Related Disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_020451.2(SELENON):c.-42T>C	rs12121707	0.99972
NM_020451.3(SELENON):c.*1722T>C	rs4659383	0.80506
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)	rs7349185	0.78899
NM_020451.3(SELENON):c.1173T>C (p.Pro391=)	rs760597	0.73933
NM_020451.3(SELENON):c.*1612T>C	rs3203750	0.70822
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)	rs2294228	0.64022
NM_020451.3(SELENON):c.*2465G>A	rs6872	0.16329
NM_020451.3(SELENON):c.*2336A>T	rs1044183	0.04632
NM_020451.3(SELENON):c.981C>T (p.Arg327=)	rs147587542	0.02788
NM_020451.3(SELENON):c.*646A>G	rs12072426	0.02628
NM_020451.3(SELENON):c.*144C>G	rs58895091	0.02379
NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln)	rs74060854	0.02376
NM_020451.3(SELENON):c.*2043G>T	rs74060855	0.02333
NM_020451.3(SELENON):c.42C>T (p.Pro14=)	rs187960531	0.02295
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.1387+11C>T	rs59653066	0.01839
NM_020451.3(SELENON):c.*1500G>A	rs116792929	0.01369
NM_020451.3(SELENON):c.*2312T>C	rs58878991	0.01325
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)	rs35019869	0.01231
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)	rs115852080	0.01060
NM_020451.3(SELENON):c.*501G>A	rs112884056	0.00998
NM_020451.3(SELENON):c.*228C>T	rs115473437	0.00976
NM_020451.3(SELENON):c.*698T>C	rs147807764	0.00671
NM_020451.3(SELENON):c.-14C>A	rs867555591	0.00642
NM_020451.3(SELENON):c.*1782C>T	rs111634484	0.00547
NM_020451.3(SELENON):c.*938C>T	rs116835124	0.00453
NM_020451.3(SELENON):c.*679C>T	rs193090975	0.00326
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	rs147131452	0.00268
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.*2130C>T	rs79324169	0.00164
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.729G>A (p.Pro243=)	rs139020143	0.00131
NM_020451.3(SELENON):c.1602+14C>T	rs41284307	0.00120
NM_020451.3(SELENON):c.*1406C>T	rs189095613	0.00096
NM_020451.3(SELENON):c.*1787G>A	rs529296434	0.00096
NM_020451.3(SELENON):c.*1840G>A	rs188191255	0.00083
NM_020451.3(SELENON):c.*1985A>T	rs535082643	0.00083
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)	rs199911454	0.00070
NM_020451.3(SELENON):c.-35T>C	rs886038656	0.00066
NM_020451.3(SELENON):c.*1807T>C	rs771273058	0.00062
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	rs201692549	0.00054
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys)	rs200958015	0.00054
NM_020451.3(SELENON):c.*1000G>A	rs566317860	0.00046
NM_020451.3(SELENON):c.1500+7G>A	rs200724231	0.00044
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	rs200128474	0.00036
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_020451.3(SELENON):c.1428G>A (p.Ser476=)	rs41284305	0.00029
NM_020451.3(SELENON):c.716G>A (p.Arg239His)	rs199709671	0.00029
NM_020451.3(SELENON):c.*1231A>G	rs113222117	0.00022
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)	rs398124359	0.00020
NM_020451.3(SELENON):c.*2047G>A	rs768657599	0.00019
NM_020451.3(SELENON):c.980G>A (p.Arg327His)	rs556232275	0.00018
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.1295C>T (p.Pro432Leu)	rs199920149	0.00011
NM_020451.3(SELENON):c.*1435G>A	rs527855788	0.00008
NM_020451.3(SELENON):c.*2475T>C	rs1007658425	0.00008
NM_020451.3(SELENON):c.*1672T>G	rs577895192	0.00006
NM_020451.3(SELENON):c.*710C>T	rs1057515500	0.00006
NM_020451.3(SELENON):c.1191G>T (p.Gln397His)	rs1311923186	0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	rs121908185	0.00006
NM_020451.3(SELENON):c.732G>A (p.Pro244=)	rs200765195	0.00006
NM_020451.3(SELENON):c.*1831A>G	rs186501242	0.00004
NM_020451.3(SELENON):c.*2158C>T	rs767863151	0.00004
NM_020451.3(SELENON):c.*942T>G	rs547606315	0.00004
NM_020451.3(SELENON):c.1110G>A (p.Thr370=)	rs779080942	0.00004
NM_020451.3(SELENON):c.*1200C>T	rs1018878055	0.00003
NM_020451.3(SELENON):c.*1251A>G	rs1033130156	0.00003
NM_020451.3(SELENON):c.*1622G>A	rs1057515432	0.00003
NM_020451.3(SELENON):c.*987T>C	rs944201547	0.00003
NM_020451.3(SELENON):c.1704G>A (p.Pro568=)	rs754350384	0.00003
NM_020451.3(SELENON):c.*1652A>G	rs993945007	0.00002
NM_020451.3(SELENON):c.*2207G>A	rs557231700	0.00002
NM_020451.3(SELENON):c.*83G>A	rs1057515542	0.00002
NM_020451.3(SELENON):c.164C>T (p.Ala55Val)	rs2047850597	0.00002
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys)	rs761068133	0.00002
NM_020451.3(SELENON):c.*2257C>T	rs573934899	0.00001
NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys)	rs749968347	0.00001
NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly)	rs562843129	0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg)	rs776738184	0.00001
NM_020451.3(SELENON):c.*1333G>C	rs1057515501
NM_020451.3(SELENON):c.*1357A>C	rs1199880716
NM_020451.3(SELENON):c.*1496TTTTG[3]	rs3033477
NM_020451.3(SELENON):c.*1731A>C	rs1057515433
NM_020451.3(SELENON):c.219_222del	rs565715051
NM_020451.3(SELENON):c.*2228del	rs1057515502
NM_020451.3(SELENON):c.2234_2236del	rs371383269
NM_020451.3(SELENON):c.*2236del	rs371383269
NM_020451.3(SELENON):c.2283_2285del	rs376975577
NM_020451.3(SELENON):c.*2403G>A	rs753762480
NM_020451.3(SELENON):c.*2437T>G	rs754516856
NM_020451.3(SELENON):c.*267C>A	rs184807941
NM_020451.3(SELENON):c.*267C>G	rs184807941
NM_020451.3(SELENON):c.*482del	rs1057515543
NM_020451.3(SELENON):c.*686A>G	rs925671818
NM_020451.3(SELENON):c.*754G>A	rs1057515467
NM_020451.3(SELENON):c.-1C>A	rs1023302860
NM_020451.3(SELENON):c.1010+14C>G	rs2047943681
NM_020451.3(SELENON):c.1092+6C>G	rs148071754
NM_020451.3(SELENON):c.1141G>A (p.Glu381Lys)	rs2047961946
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)	rs770747626
NM_020451.3(SELENON):c.1575G>A (p.Met525Ile)	rs1057515466
NM_020451.3(SELENON):c.1710G>A (p.Thr570=)	rs371398538
NM_020451.3(SELENON):c.180del (p.Gln61fs)	rs1557814066
NM_020451.3(SELENON):c.302-11T>A	rs2047864816
NM_020451.3(SELENON):c.537+1dup	rs1557428131
NM_020451.3(SELENON):c.957C>T (p.Leu319=)	rs377537585

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