ClinVar Miner

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

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_015046.5(SETX):c.1957C>A (p.Gln653Lys) rs116333061
NM_015046.5(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.5(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.5(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.5(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.5(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.5(SETX):c.4755T>G (p.Pro1585=) rs151237267
NM_015046.5(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.5(SETX):c.6507G>A (p.Gly2169=) rs34073320
NM_015046.5(SETX):c.7114G>A (p.Asp2372Asn) rs150673589
NM_015046.5(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.5(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.5(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.6(SETX):c.1968A>G (p.Val656=) rs113997459
NM_015046.6(SETX):c.2113A>C (p.Ile705Leu) rs34781846
NM_015046.6(SETX):c.2124T>C (p.Ser708=) rs139236924
NM_015046.6(SETX):c.3072_3074dup (p.Asp1024_Glu1025insAsp) rs572772837
NM_015046.6(SETX):c.3182C>T (p.Pro1061Leu) rs12352982
NM_015046.6(SETX):c.3568A>G (p.Lys1190Glu) rs35473230
NM_015046.6(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.6(SETX):c.3663G>C (p.Lys1221Asn) rs12344006
NM_015046.6(SETX):c.5375-12_5375-10delCTT rs201317659
NM_015046.6(SETX):c.5781+10G>A rs537414669
NM_015046.6(SETX):c.6108A>G (p.Gly2036=) rs35815657
NM_015046.6(SETX):c.7101A>G (p.Gly2367=) rs79233884
NM_015046.6(SETX):c.7200-11_7200-10delTT rs531485265
NM_015046.6(SETX):c.7905C>T (p.Ala2635=) rs112201716

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