ClinVar Miner

List of variants in gene SETX reported by GeneDx

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_015046.7(SETX):c.1508G>A (p.Ser503Asn) rs1085307770
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424
NM_015046.7(SETX):c.243del (p.Ile81fs) rs1455336434
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594
NM_015046.7(SETX):c.3057_3059TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4936C>T (p.Gln1646Ter) rs886041522
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487
NM_015046.7(SETX):c.5949+5G>A rs374656811
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
NM_015046.7(SETX):c.7520C>G (p.Ser2507Cys) rs1373360956
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899
NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp) rs1085307585
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665

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