ClinVar Miner

List of variants in gene SETX reported as pathogenic for not provided

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Gene type:
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Total variants: 25
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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.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.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
GRCh37/hg19 9q34.13(chr9:135209995-135210114)x1
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
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.4630_4631del (p.Leu1544fs) rs1356107030
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.5008C>T (p.Gln1670Ter) rs762808367
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015046.7(SETX):c.5243dup (p.Leu1750fs) rs754706851
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5547_5548+2del rs1554813128
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) rs770684782
NM_015046.7(SETX):c.6838_6841del (p.Asn2280fs) rs1439109327

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