ClinVar Miner

List of variants in gene SETX reported as likely pathogenic for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5276del (p.Val1759fs)
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) rs863224919
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys) rs759299299
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter) rs1339011741
NM_015046.7(SETX):c.718+3G>C rs2131504173

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