List of variants in gene USP27X studied for Intellectual disability, X-linked 105

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001145073.3(USP27X):c.1032G>C (p.Glu344Asp)	rs369350486	0.00004
NM_001145073.3(USP27X):c.1157G>A (p.Arg386Gln)	rs1557162735	0.00001
NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)	rs1557162761	0.00001
NM_001145073.3(USP27X):c.94G>A (p.Glu32Lys)	rs369669737	0.00001
NM_001145073.3(USP27X):c.1026_1030del (p.Ser342fs)	rs886038210
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter)	rs2147224405
NM_001145073.3(USP27X):c.1141T>C (p.Tyr381His)	rs886038211
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)	rs2519167657
NM_001145073.3(USP27X):c.1265T>C (p.Val422Ala)
NM_001145073.3(USP27X):c.226G>A (p.Gly76Ser)	rs2519166853
NM_001145073.3(USP27X):c.394G>T (p.Glu132Ter)	rs2519167013
NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)	rs2519167041
NM_001145073.3(USP27X):c.541A>G (p.Lys181Glu)	rs1380831327
NM_001145073.3(USP27X):c.719_721del (p.Phe240del)	rs782650755
NM_001145073.3(USP27X):c.937T>G (p.Phe313Val)	rs2519167465
NM_001145073.3(USP27X):c.954del (p.Lys318fs)	rs2519167480

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