ClinVar Miner

List of variants in gene SETX reported as pathogenic

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Gene type:
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Total variants: 68
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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.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter) rs553512431 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015046.7(SETX):c.6106G>A (p.Gly2036Arg) rs863224919 0.00002
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser) rs762175796 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 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.6620A>T (p.Asp2207Val) rs1564482221 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
GRCh37/hg19 9q34.13(chr9:135209995-135210114)x1
NC_000009.11:g.(?_135201691)_(135210134_?)del
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro) rs2131461009
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.243del (p.Ile81fs) rs1455336434
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu) rs2131444517
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
NM_015046.7(SETX):c.3399dup (p.Gly1134fs) rs1554820931
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter) rs2131440608
NM_015046.7(SETX):c.387_388+2del
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs) rs1356107030
NM_015046.7(SETX):c.4679dup (p.Asn1560fs) rs746973259
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs) rs2131428041
NM_015046.7(SETX):c.4936C>T (p.Gln1646Ter) rs886041522
NM_015046.7(SETX):c.5008C>T (p.Gln1670Ter) rs762808367
NM_015046.7(SETX):c.5019del (p.Val1674fs)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015046.7(SETX):c.5243dup (p.Leu1750fs) rs754706851
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5547_5548+2del rs1554813128
NM_015046.7(SETX):c.5820del (p.Ala1941fs)
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs) rs1564492117
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) rs1844047388
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) rs770684782
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.6421_6422del (p.Gln2141fs)
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6838_6841del (p.Asn2280fs) rs1439109327
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149
NM_015046.7(SETX):c.719G>A (p.Gly240Asp) rs1589757407
NM_015046.7(SETX):c.7292dup (p.Asn2431fs) rs2131115543
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015046.7(SETX):c.900del (p.Gly301fs) rs1554822175

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