ClinVar Miner

List of variants in gene SETX reported as pathogenic by Invitae

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NC_000009.11:g.(?_135201691)_(135210134_?)del
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro) rs2131461009
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter) rs2131440608
NM_015046.7(SETX):c.387_388+2del
NM_015046.7(SETX):c.4679dup (p.Asn1560fs) rs746973259
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
NM_015046.7(SETX):c.5019del (p.Val1674fs)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) rs1844047388
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149

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