ClinVar Miner

List of variants in gene SETX reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441
NM_015046.7(SETX):c.272A>G (p.Asp91Gly) rs1327343862
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544
NM_015046.7(SETX):c.3057_3059TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.377A>G (p.His126Arg)
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695
NM_015046.7(SETX):c.4507C>G (p.Pro1503Ala) rs745844516
NM_015046.7(SETX):c.4645T>G (p.Cys1549Gly)
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4964C>T (p.Ser1655Leu) rs1189378413
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991
NM_015046.7(SETX):c.7427C>T (p.Pro2476Leu) rs767515528
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171
NM_015046.7(SETX):c.7820A>G (p.Glu2607Gly) rs1554801389
NM_015046.7(SETX):c.7928A>G (p.Gln2643Arg)
NM_015046.7(SETX):c.832G>A (p.Ala278Thr) rs369035418

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