ClinVar Miner

List of variants in gene SELENON reported as uncertain significance for SEPN1-Related Disorders

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_020451.2(SELENON):c.-42T>C rs12121707 0.99972
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.*679C>T rs193090975 0.00326
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.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.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.732G>A (p.Pro244=) rs200765195 0.00006
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.*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.*2236del rs371383269
NM_020451.3(SELENON):c.*2403G>A rs753762480
NM_020451.3(SELENON):c.*2437T>G rs754516856
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.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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