ClinVar Miner

List of variants in gene SETX reported as likely benign by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
NM_015046.7(SETX):c.5949+5G>A rs374656811
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)

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