ClinVar Miner

List of variants in gene SETX reported as likely benign for DNA repair disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_015046.7(SETX):c.*168C>T
NM_015046.7(SETX):c.*2232T>C rs545456048
NM_015046.7(SETX):c.*2506T>C rs73545065
NM_015046.7(SETX):c.*319C>T rs1056912
NM_015046.7(SETX):c.*905A>G rs58327306
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015
NM_015046.7(SETX):c.1668G>A (p.Lys556=) rs1328865930
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.7(SETX):c.2232A>C (p.Thr744=) rs749481788
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu) rs557074957
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270
NM_015046.7(SETX):c.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.3651G>A (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182
NM_015046.7(SETX):c.4353A>G (p.Val1451=) rs771367273
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5375-9G>C rs1239409311
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712
NM_015046.7(SETX):c.5835A>G (p.Ala1945=)
NM_015046.7(SETX):c.6276T>C (p.Asp2092=) rs759395503
NM_015046.7(SETX):c.6771G>A (p.Gln2257=) rs778895541
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919
NM_015046.7(SETX):c.7100+9T>C rs200088320
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311
NM_015046.7(SETX):c.7200-16dup rs531485265
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231
NM_015046.7(SETX):c.900T>C (p.Leu300=) rs147938250
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576

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