ClinVar Miner

List of variants in gene SETX reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015046.7(SETX):c.390C>T (p.Asn130=) rs138363625 0.00014
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.1227A>G (p.Leu409=) rs769913556 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.1140T>G (p.Pro380=) rs140553290 0.00004
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe) rs1589747116
NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del) rs2131441680
NM_015046.7(SETX):c.4048A>G (p.Met1350Val)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7943C>T (p.Ser2648Phe) rs1014113627

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