ClinVar Miner

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

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_015046.6(SETX):c.7200-10dup rs531485265
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.192A>G (p.Leu64=) rs117326462
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
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.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253
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.431A>G (p.Asn144Ser) rs767453182
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.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.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865
NM_015046.7(SETX):c.7100+9T>C rs200088320
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.768G>T (p.Leu256=) rs759468738
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576

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