ClinVar Miner

List of variants in gene SETX studied for Inborn genetic diseases

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Total variants: 7
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HGVS dbSNP
NM_015046.7(SETX):c.1034A>G (p.Tyr345Cys) rs367824771
NM_015046.7(SETX):c.3399dup (p.Gly1134fs) rs1554820931
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658
NM_015046.7(SETX):c.900del (p.Gly301fs) rs1554822175

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