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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)	rs534723946	0.00010
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)	rs776470487	0.00004
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)	rs759806045	0.00002
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)	rs1391764195	0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)	rs121434380	0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)	rs1331217337	0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)	rs29001665	0.00001
NM_015046.7(SETX):c.2143_2144del (p.Val715fs)
NM_015046.7(SETX):c.2228C>G (p.Ser743Ter)
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs)	rs1356107030
NM_015046.7(SETX):c.4775_4776del (p.Pro1591_Leu1592insTer)	rs2131429676
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)	rs1589734405
NM_015046.7(SETX):c.5130T>A (p.Tyr1710Ter)	rs768582274
NM_015046.7(SETX):c.5543C>A (p.Ser1848Ter)
NM_015046.7(SETX):c.5673del (p.Ala1892fs)	rs1844781818
NM_015046.7(SETX):c.5753del (p.Asp1918fs)	rs2131294861
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter)	rs901109960
NM_015046.7(SETX):c.6388del (p.Ile2130fs)
NM_015046.7(SETX):c.6406C>T (p.Arg2136Cys)	rs1554807765
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)	rs1473613373
NM_015046.7(SETX):c.6654+1G>A	rs1554806979
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)	rs752122764
NM_015046.7(SETX):c.6850_6851dup (p.Ala2285fs)	rs748700245
NM_015046.7(SETX):c.7042dup (p.Tyr2348fs)	rs1057519213
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)	rs765371601
NM_015046.7(SETX):c.7288-2A>G	rs1554801819
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	rs28941475

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