ClinVar Miner

List of variants in gene SETX studied for Charcot-Marie-Tooth disease

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Total variants: 8
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HGVS dbSNP
NM_015046.5(SETX):c.[59G>A(;)3809C>T]
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter) rs587781249
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys) rs267607044
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889

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