ClinVar Miner

List of variants in gene SETX reported by Mendelics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe) rs2131463306
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149

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