List of variants in gene SETX reported by Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.1398T>G (p.Ile466Met)	rs927783972	0.00001
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)	rs148041889	0.00001
NM_015046.7(SETX):c.7199+8A>G	rs747893697	0.00001
NM_015046.5(SETX):c.[59G>A(;)3809C>T]
NM_015046.7(SETX):c.1934T>A (p.Phe645Tyr)	rs2131457188
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter)	rs587781249
NM_015046.7(SETX):c.3265G>A (p.Val1089Met)	rs917637229

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